#1

GET https://tx.fhir.org/r4/metadata HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
User-Agent: fhir/publisher

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:25:19 GMT
etag:W/"fc5-PeOYUas9JotxvZ6WOgvEE06iQws"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112176

{"resourceType":"CapabilityStatement","id":"FhirServer","extension":[{"extension":[{"url":"definition","valueCanonical":"http://hl7.org/fhir/uv/tx-tests/FeatureDefinition/test-version"},{"url":"value","valueCode":"1.9.5-SNAPSHOT"},{"extension":[{"url":"name","valueCode":"mode"},{"url":"value","valueCode":"tx.fhir.org"}],"url":"qualifier"}],"url":"http://hl7.org/fhir/uv/application-feature/StructureDefinition/feature"},{"extension":[{"url":"definition","valueCanonical":"http://hl7.org/fhir/uv/tx-ecosystem/FeatureDefinition/CodeSystemAsParameter"},{"url":"value","valueBoolean":true}],"url":"http://hl7.org/fhir/uv/application-feature/StructureDefinition/feature"}],"url":"https://tx.fhir.org/r4/CapabilityStatement/tx","version":"4.0.1-0.14.2","name":"FHIRTerminologyServer","title":"FHIR Terminology Server","status":"active","date":"2026-10-06T13:25:19.719Z","contact":[{"telecom":[{"system":"other","value":"http://example.org/"}]}],"description":"FHIR Terminology Server","kind":"instance","instantiates":["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software":{"name":"FHIRsmith","version":"0.14.2","releaseDate":"2026-10-06T13:25:19.719Z"},"implementation":{"description":"FHIR Server running at https://tx.fhir.org/r4","url":"https://tx.fhir.org/r4"},"fhirVersion":"4.0.1","format":["application/fhir+xml","application/fhir+json"],"rest":[{"mode":"server","security":{"cors":true},"resource":[{"type":"CodeSystem","interaction":[{"code":"read","documentation":"Read a code system"},{"code":"search-type","documentation":"Search the code systems"}],"searchParam":[{"name":"url","type":"uri"},{"name":"version","type":"token"},{"name":"name","type":"string"},{"name":"title","type":"string"},{"name":"status","type":"token"},{"name":"_id","type":"token"}],"operation":[{"name":"lookup","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-lookup"},{"name":"validate-code","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-validate-code"},{"name":"subsumes","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-subsumes"}]},{"type":"ValueSet","interaction":[{"code":"read","documentation":"Read a ValueSet"},{"code":"search-type","documentation":"Search the value sets"}],"searchParam":[{"name":"url","type":"uri"},{"name":"version","type":"token"},{"name":"name","type":"string"},{"name":"title","type":"string"},{"name":"status","type":"token"},{"name":"_id","type":"token"}],"operation":[{"name":"expand","definition":"http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name":"validate-code","definition":"http://hl7.org/fhir/OperationDefinition/ValueSet-validate-code"},{"name":"compare","definition":"http://hl7.org/fhir/tools/OperationDefinition/ValueSet-compare"}]},{"type":"ConceptMap","interaction":[{"code":"read","documentation":"Read a ConceptMap"},{"code":"search-type","documentation":"Search the concept maps"}],"searchParam":[{"name":"url","type":"uri"},{"name":"version","type":"token"},{"name":"name","type":"string"},{"name":"title","type":"string"},{"name":"status","type":"token"},{"name":"_id","type":"token"}],"operation":[{"name":"translate","definition":"http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"}]}],"interaction":[{"code":"transaction"}],"operation":[{"name":"expand","definition":"http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name":"lookup","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-lookup"},{"name":"subsumes","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-subsumes"},{"name":"validate-code","definition":"http://hl7.org/fhir/OperationDefinition/Resource-validate-code"},{"name":"translate","definition":"http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"},{"name":"compare","definition":"http://hl7.org/fhir/tools/OperationDefinition/ValueSet-compare"},{"name":"cache-control","definition":"http://hl7.org/fhir/tools/OperationDefinition/cache-control"},{"name":"versions","definition":"http://hl7.org/fhir/OperationDefinition/fhir-versions"}]}]}

#2

GET https://tx.fhir.org/r4/metadata?mode=terminology HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
User-Agent: fhir/publisher

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:25:19 GMT
etag:W/"4def8-g/vDDJHJ/+U5IXRcqOd9bNr/TEI"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112177

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Server","kind":"instance","codeSystem":[{"uri":"http://cap.org/eCP","version":[{"code":"4.000.001"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"fragment"}]},{"uri":"http://cds-hooks.hl7.org/CodeSystem/indicator","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://devices.fhir.org/CodeSystem/MDC-concept-status","extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://devices.fhir.org/CodeSystem/MDC-designation-use","extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://dicom.nema.org/resources/ontology/DCM","version":[{"code":"01"},{"code":"2025.3.20250714"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://fdasis.nlm.nih.gov","version":[{"code":"2024-06-22"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://fhir.org/packages/fhir.tx.support/CodeSystem/designation-usage","version":[{"code":"0.1.0"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://healthit.gov/nhin/purposeofuse","version":[{"code":"2.0"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/abstract-types","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/account-status","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-cardinality-behavior","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-condition-kind","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-grouping-behavior","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-participant-type","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-precheck-behavior","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-relationship-type","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-required-behavior","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/action-selection-behavior","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/additionalmaterials","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/address-type","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/address-use","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/administrative-gender","version":[{"code":"4.0.1"}],"extension":[{"url":"http://hl7.org/fhir/5.0/StructureDefinition/extension-TerminologyCapabilities.codeSystem.content","valueCode":"complete"}]},{"uri":"http://hl7.org/fhir/adv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#5

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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://snomed.info/sct","concept":[{"code":"415882003","display":"Axillary temperature"},{"code":"415929009","display":"Groin temperature"},{"code":"415945006","display":"Orale Temperatur"},{"code":"415922000","display":"Temperature of forehead (observable entity)"},{"code":"386725007","display":"Body temperature (observable entity)"}]}]}}}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:925
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:37 GMT
etag:W/"39d-sOSF9iFp7xXYORhaViu18NZZM60"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112560

{"resourceType":"ValueSet","status":"active","expansion":{"timestamp":"2026-10-06T13:26:37.199Z","identifier":"urn:uuid:07125749-7248-4000-af01-c28ff83e744d","parameter":[{"name":"excludeNested","valueBoolean":true},{"name":"includeDefinition","valueBoolean":false},{"name":"offset","valueInteger":0},{"name":"count","valueInteger":1000},{"name":"used-codesystem","valueUri":"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}],"offset":0,"total":5,"contains":[{"system":"http://snomed.info/sct","code":"415882003","display":"Axillary temperature"},{"system":"http://snomed.info/sct","code":"415929009","display":"Groin temperature"},{"system":"http://snomed.info/sct","code":"415945006","display":"Oral temperature"},{"system":"http://snomed.info/sct","code":"415922000","display":"Forehead temperature"},{"system":"http://snomed.info/sct","code":"386725007","display":"Body temperature"}]}}

#6

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://snomed.info/sct","concept":[{"code":"276885007","display":"Core body temperature"},{"code":"415882003","display":"Estimated core body temperature measured in axillary region"},{"code":"1222808002","display":"Core body temperature measured in blood"},{"code":"698832009","display":"Core body temperature measured at urinary bladder"},{"code":"415929009","display":"Estimated core body temperature measured in inguinal region"},{"code":"415945006","display":"Estimated core body temperature measured in sublingual space"},{"code":"307047009","display":"Core body temperature measured in rectum"},{"code":"431598003","display":"Core body temperature measured in esophagus"},{"code":"415974002","display":"Core body temperature measured at tympanic membrane"},{"code":"364246006","display":"Core body temperature measured vaginally"}]}]}}}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:37 GMT
etag:W/"58f-ib9XU/6W3fOQgRGm2509QzkWQLU"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112561

{"resourceType":"ValueSet","status":"active","expansion":{"timestamp":"2026-10-06T13:26:37.319Z","identifier":"urn:uuid:9795fcef-d4b4-47fd-a9d0-75f1f28d3cd7","parameter":[{"name":"excludeNested","valueBoolean":true},{"name":"includeDefinition","valueBoolean":false},{"name":"offset","valueInteger":0},{"name":"count","valueInteger":1000},{"name":"used-codesystem","valueUri":"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}],"offset":0,"total":10,"contains":[{"system":"http://snomed.info/sct","code":"276885007","display":"Core body temperature"},{"system":"http://snomed.info/sct","code":"415882003","display":"Axillary temperature"},{"system":"http://snomed.info/sct","code":"1222808002","display":"Core body temperature measured in blood"},{"system":"http://snomed.info/sct","code":"698832009","display":"Core body temperature measured at urinary bladder"},{"system":"http://snomed.info/sct","code":"415929009","display":"Groin temperature"},{"system":"http://snomed.info/sct","code":"415945006","display":"Oral temperature"},{"system":"http://snomed.info/sct","code":"307047009","display":"Rectal temperature"},{"system":"http://snomed.info/sct","code":"431598003","display":"Temperature of esophagus"},{"system":"http://snomed.info/sct","code":"415974002","display":"Tympanic temperature"},{"system":"http://snomed.info/sct","code":"364246006","display":"Temperature of vagina"}]}}

#7

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"urn:ietf:bcp:13"}]}}}]}

422
access-control-allow-credentials:true
connection:keep-alive
content-length:547
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:37 GMT
etag:W/"223-86fWDFekEN9MmymmhCo/e1LtIOw"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112563

{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-supported","details":{"text":"The code system 'urn:ietf:bcp:13' cannot be expanded because its codes cannot be iterated or enumerated in any meaningful sense","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-supported"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"CODESYSTEM_NOT_ENUMERABLE"}],"diagnostics":"0ms tx-op\n0ms start working\n0ms compose #1\n0ms compose #2"}]}

#8

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"urn:ietf:bcp:13","concept":[{"code":"application/fhir+json"},{"code":"application/fhir+xml"}]}]}}}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:616
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:37 GMT
etag:W/"268-BiZoc6Itf7VoLfCv4s9BHbcEhP4"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112564

{"resourceType":"ValueSet","status":"active","expansion":{"timestamp":"2026-10-06T13:26:37.751Z","identifier":"urn:uuid:48591883-8feb-49d1-b854-614f2bc9d396","parameter":[{"name":"excludeNested","valueBoolean":true},{"name":"includeDefinition","valueBoolean":false},{"name":"offset","valueInteger":0},{"name":"count","valueInteger":1000},{"name":"used-codesystem","valueUri":"urn:ietf:bcp:13"}],"offset":0,"total":2,"contains":[{"system":"urn:ietf:bcp:13","code":"application/fhir+json","display":"application/fhir+json"},{"system":"urn:ietf:bcp:13","code":"application/fhir+xml","display":"application/fhir+xml"}]}}

#9

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"423740007"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:41 GMT
etag:W/"504-BPyZ75HNQUldKIr09hNaHRKU9Gg"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112576

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"423740007"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"ECOG performance status"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#423740007 (\"undefined\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#423740007\"\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at Coding\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"423740007\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#10

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"urn:ietf:bcp:13","code":"application/pdf"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:660
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:41 GMT
etag:W/"294-zMB1af+VH65HK6ypCuNpQ3HkCRU"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112577

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"urn:ietf:bcp:13"},{"name":"code","valueCode":"application/pdf"},{"name":"display","valueString":"application/pdf"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms urn:ietf:bcp:13/vs: Validate \"[urn:ietf:bcp:13#application/pdf (\"undefined\")]\"\n0ms urn:ietf:bcp:13/vs: Check \"urn:ietf:bcp:13#application/pdf\"\n1ms urn:ietf:bcp:13/vs: CodeSystem found: urn:ietf:bcp:13|null for urn:ietf:bcp:13\n1ms urn:ietf:bcp:13/vs: check code in (urn:ietf:bcp:13) at Coding\n1ms urn:ietf:bcp:13/vs: Code \"application/pdf\" found in urn:ietf:bcp:13|null"}]}

#11

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"761869008"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:41 GMT
etag:W/"515-j7PxHOrh9nfgxDZOCxQUCuE3/DM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112579

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"761869008"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"KPS (Karnofsky Performance Status) score"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#761869008 (\"undefined\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#761869008\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at Coding\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"761869008\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#12

GET https://tx.fhir.de/fhir/metadata HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
User-Agent: fhir/publisher

200
cache-control:no-cache
content-location:https://tx.fhir.de/fhir/CapabilityStatement/81e04670-d88e-4d48-ab95-04e2b14dcc17
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:26:41 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:a0023ba7-ccb4-4973-8a9b-e7f444cd5ec7
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:a0023ba7-ccb4-4973-8a9b-e7f444cd5ec7
x-xss-protection:0

{"resourceType":"CapabilityStatement","id":"81e04670-d88e-4d48-ab95-04e2b14dcc17","text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\">HAPI FHIR Server</div>"},"extension":[{"url":"http://hl7.org/fhir/uv/application-feature/StructureDefinition/feature","extension":[{"url":"definition","valueCanonical":"http://hl7.org/fhir/uv/tx-tests/FeatureDefinition/test-version"},{"url":"value","valueCode":"1.7.6"},{"url":"qualifier","extension":[{"url":"name","valueCode":"mode"},{"url":"value","valueCode":"ontoserver"},{"url":"value","valueCode":"flat"}]}]},{"url":"http://hl7.org/fhir/uv/application-feature/StructureDefinition/feature","extension":[{"url":"definition","valueCanonical":"http://hl7.org/fhir/uv/tx-ecosystem/FeatureDefinition/CodeSystemAsParameter"},{"url":"value","valueBoolean":true}]}],"url":"http://localhost:8080/fhir/metadata","version":"6.24.2.1790826505433","name":"FHIR_Conformance_statement_for_Ontoserver","title":"FHIR Conformance statement for Ontoserver®","status":"active","experimental":true,"date":"2026-10-01T03:48:24.196+00:00","publisher":"The Australian e-Health Research Centre, CSIRO","contact":[{"telecom":[{"system":"email","value":"ontoserver-support@csiro.au"}]}],"description":"An instance of Ontoserver implementing the HL7 FHIR terminology server specification.","kind":"instance","instantiates":["http://hl7.org/fhir/CapabilityStatement/terminology-server","http://hl7.org/fhir/uv/subscriptions-backport/CapabilityStatement/backport-subscription-server-r4"],"software":{"extension":[{"url":"http://ontoserver.csiro.au/profiles/ontoserver-versions","extension":[{"url":"snomedIndexVersion","valueString":"2.0.15"},{"url":"loincIndexVersion","valueString":"2.0.7"},{"url":"fhirIndexVersion","valueString":"2.9.0"}]}],"name":"Ontoserver®","version":"6.24.2","releaseDate":"2026-03-11T09:49:11+00:00"},"implementation":{"extension":[{"url":"http://ontoserver.csiro.au/profiles/ontoserver-endpoints","extension":[{"url":"api","valueUri":"http://localhost:8080/api"},{"url":"synd","valueUri":"http://localhost:8080/synd"}]}],"description":"Ontoserver, The Australian e-Health Research Centre, CSIRO","url":"http://localhost:8080/fhir"},"fhirVersion":"4.0.1","format":["application/fhir+xml","xml","application/fhir+json","json","application/x-turtle","ttl"],"implementationGuide":["http://hl7.org/fhir/uv/subscriptions-backport/ImplementationGuide/hl7.fhir.uv.subscriptions-backport"],"rest":[{"mode":"server","security":{"cors":true,"service":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/restful-security-service","code":"Basic"}],"text":"Basic authentication defined in HTTP specification"}]},"resource":[{"type":"Account","profile":"http://hl7.org/fhir/StructureDefinition/Account","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"ActivityDefinition","profile":"http://hl7.org/fhir/StructureDefinition/ActivityDefinition","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"AdverseEvent","profile":"http://hl7.org/fhir/StructureDefinition/AdverseEvent","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"AllergyIntolerance","profile":"http://hl7.org/fhir/StructureDefinition/AllergyIntolerance","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"Appointment","profile":"http://hl7.org/fhir/StructureDefinition/Appointment","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"AppointmentResponse","profile":"http://hl7.org/fhir/StructureDefinition/AppointmentResponse","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"AuditEvent","profile":"http://hl7.org/fhir/StructureDefinition/AuditEvent","interaction":[{"code":"create"}],"operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"Basic","profile":"http://hl7.org/fhir/StructureDefinition/Basic","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"Binary","profile":"http://hl7.org/fhir/StructureDefinition/Binary","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"BiologicallyDerivedProduct","profile":"http://hl7.org/fhir/StructureDefinition/BiologicallyDerivedProduct","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"BodyStructure","profile":"http://hl7.org/fhir/StructureDefinition/BodyStructure","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"Bundle","profile":"http://hl7.org/fhir/StructureDefinition/Bundle","interaction":[{"code":"search-type"},{"code":"update"},{"code":"vread"},{"code":"read"},{"code":"patch"},{"code":"history-instance"},{"code":"history-type"},{"code":"delete"},{"code":"create"}],"versioning":"versioned-update","readHistory":true,"searchParam":[{"name":"_sort","type":"string"},{"name":"_count","type":"number"},{"name":"_id","type":"string","documentation":"The ID of the resource"},{"name":"_lastUpdated","type":"date","documentation":"Only return resources which were last updated as specified by the given range"},{"name":"_security","type":"token","documentation":"The security of the resource"},{"name":"_tag","type":"token","documentation":"The tag of the resource"},{"name":"identifier","type":"token","documentation":"Persistent identifier for the bundle"},{"name":"type","type":"token","documentation":"document | message | transaction | transaction-response | batch | batch-response | history | searchset | collection"},{"name":"x-syndication-status","type":"token"}],"operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"},{"name":"meta-delete","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-i-meta-delete"},{"name":"meta-add","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-i-meta-add"},{"name":"meta","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-i-meta"},{"name":"diff","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-is-diff"}]},{"type":"CapabilityStatement","profile":"http://hl7.org/fhir/StructureDefinition/CapabilityStatement","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"CarePlan","profile":"http://hl7.org/fhir/StructureDefinition/CarePlan","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"CareTeam","profile":"http://hl7.org/fhir/StructureDefinition/CareTeam","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"CatalogEntry","profile":"http://hl7.org/fhir/StructureDefinition/CatalogEntry","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"ChargeItem","profile":"http://hl7.org/fhir/StructureDefinition/ChargeItem","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"ChargeItemDefinition","profile":"http://hl7.org/fhir/StructureDefinition/ChargeItemDefinition","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"Claim","profile":"http://hl7.org/fhir/StructureDefinition/Claim","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"ClaimResponse","profile":"http://hl7.org/fhir/StructureDefinition/ClaimResponse","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"ClinicalImpression","profile":"http://hl7.org/fhir/StructureDefinition/ClinicalImpression","operation":[{"name":"validate","definition":"http://localhost:8080/fhir/OperationDefinition/Multi-it-validate"}]},{"type":"CodeSystem","profile":"http://hl7.org/fhir/StructureDefinition/CodeSystem","interaction":[{"code":"search-type"},{"code":"update","documentation":"The 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#13

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#14

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#15

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm HTTP/1.1
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#16

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x-request-id:26126c5d-9436-4281-9e7a-be8b66c04895
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"C50.9"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2013"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"vs-invalid"}],"text":"Unable to check whether the code is in the value set '' because the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm|2013 was not found"}},{"severity":"error","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}],"text":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/icd-10-gm' version '2013' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]"},"location":["Coding.system"],"expression":["Coding.system"]}]}},{"name":"x-caused-by-unknown-system","valueCanonical":"http://fhir.de/CodeSystem/bfarm/icd-10-gm|2013"},{"name":"message","valueString":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/icd-10-gm' version '2013' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]; Unable to check whether the code is in the value set '' because the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm|2013 was not found"}]}

#17

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"a"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:771
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:42 GMT
etag:W/"303-bu4PsKo5biE0hiTL9oXY0Gd5qBw"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112582

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://unitsofmeasure.org"},{"name":"code","valueCode":"a"},{"name":"version","valueString":"2.2"},{"name":"display","valueString":"a"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://unitsofmeasure.org/vs|2.2: Validate \"[http://unitsofmeasure.org#a (\"undefined\")]\"\n0ms http://unitsofmeasure.org/vs|2.2: Check \"http://unitsofmeasure.org#a\"\n1ms http://unitsofmeasure.org/vs|2.2: CodeSystem found: http://unitsofmeasure.org|2.2 for http://unitsofmeasure.org|2.2\n1ms http://unitsofmeasure.org/vs|2.2: check code in (http://unitsofmeasure.org) at Coding\n1ms http://unitsofmeasure.org/vs|2.2: Code \"a\" found in http://unitsofmeasure.org|2.2"}]}

#18

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":false,"include":[{"system":"http://loinc.org","concept":[{"code":"55229-9","display":"Immune stain study"},{"code":"51969-4","display":"Genetic analysis report"},{"code":"11526-1","display":"Pathology study report"},{"code":"85231-9","display":"Tumor board Note"}]}]}}}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:748
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:43 GMT
etag:W/"2ec-me6HqhFFI4gjWqtYdNKARSDhf8M"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112583

{"resourceType":"ValueSet","status":"active","expansion":{"timestamp":"2026-10-06T13:26:43.295Z","identifier":"urn:uuid:ba395ec3-4120-473f-b980-500905c3a661","parameter":[{"name":"excludeNested","valueBoolean":true},{"name":"includeDefinition","valueBoolean":false},{"name":"offset","valueInteger":0},{"name":"count","valueInteger":1000},{"name":"used-codesystem","valueUri":"http://loinc.org|2.82"}],"offset":0,"total":4,"contains":[{"system":"http://loinc.org","code":"55229-9","display":"Immune stain study"},{"system":"http://loinc.org","code":"51969-4","display":"Genetic analysis report"},{"system":"http://loinc.org","code":"11526-1","display":"Pathology study"},{"system":"http://loinc.org","code":"85231-9","display":"Tumor board Note"}]}}

#19

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"55229-9","display":"Immune stain study"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"lenient-display-validation","valueBoolean":true},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"mode","valueString":"lenient-display-validation"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:722
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:43 GMT
etag:W/"2d2-qFotWCLzsPJyJOimWhwn9GeWUhQ"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112585

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"55229-9"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Immune stain study"},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#55229-9 (\"Immune stain study\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#55229-9\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at Coding\n2ms http://loinc.org/vs|2.82: Code \"55229-9\" found in http://loinc.org|2.82"}]}

#20

POST https://tx.fhir.org/r4/ValueSet/$batch-validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"validation","resource":{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"51969-4","display":"Genetic analysis report"}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"displayLanguage","valueString":"en-US"},{"name":"lenient-display-validation","valueBoolean":true},{"name":"default-to-latest-version","valueBoolean":true}]}},{"name":"validation","resource":{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"11526-1","display":"Pathology study report"}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"displayLanguage","valueString":"en-US"},{"name":"lenient-display-validation","valueBoolean":true},{"name":"default-to-latest-version","valueBoolean":true}]}},{"name":"validation","resource":{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"85231-9","display":"Tumor board Note"}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"displayLanguage","valueString":"en-US"},{"name":"lenient-display-validation","valueBoolean":true},{"name":"default-to-latest-version","valueBoolean":true}]}}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:43 GMT
etag:W/"724-DuwIktJPwiNcUMgWH6GR4VppoLg"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112586

{"resourceType":"Parameters","parameter":[{"name":"validation","resource":{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"51969-4"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Genetic analysis report"}]}},{"name":"validation","resource":{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"11526-1"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Pathology study"},{"name":"message","valueString":"Wrong Display Name 'Pathology study report' for http://loinc.org#11526-1. Valid display is one of 3 choices: 'Pathology study' (en-US), 'Pathology study' (en-US) or 'Pathology study' (en-US) (for the language(s) 'en-US')"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"invalid","details":{"text":"Wrong Display Name 'Pathology study report' for http://loinc.org#11526-1. Valid display is one of 3 choices: 'Pathology study' (en-US), 'Pathology study' (en-US) or 'Pathology study' (en-US) (for the language(s) 'en-US')","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-display"}]},"expression":["Coding.display"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"Display_Name_for__should_be_one_of__instead_of"}]}]}}]}},{"name":"validation","resource":{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"85231-9"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Tumor board Note"}]}}]}

#21

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"83243-6","display":"Comorbidities and coexisting conditions"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:945
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:44 GMT
etag:W/"3b1-dUxgPNxKZC/tenot+aog9pHMhKU"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112592

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"83243-6"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Comorbidities and coexisting conditions"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"83243-6","display":"Comorbidities and coexisting conditions"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#83243-6 (\"Comorbidities and coexisting conditions\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#83243-6\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"83243-6\" found in http://loinc.org|2.82"}]}

#22

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"89262-0"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:735
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:44 GMT
etag:W/"2df-Tyw3nr/mvchp0kQqu7T188izAaQ"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112594

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"89262-0"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"ECOG Performance Status [Interpretation]"},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#89262-0 (\"undefined\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#89262-0\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at Coding\n2ms http://loinc.org/vs|2.82: Code \"89262-0\" found in http://loinc.org|2.82"}]}

#23

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"inferSystem","valueBoolean":true},{"name":"code","valueCode":"de-DE"},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b","version":"1","status":"active","compose":{"include":[{"system":"urn:ietf:bcp:47"}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:44 GMT
etag:W/"51f-R+2h2qaWSaicTawjZIsuHegV9O8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112595

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"urn:ietf:bcp:47"},{"name":"code","valueCode":"de-DE"},{"name":"display","valueString":"German (Germany)"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Analysing urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1 for validation purposes\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Prepare include[0]: \"(urn:ietf:bcp:47)\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: CodeSystem found: \"urn:ietf:bcp:47|null\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Validate \"[undefined#de-DE (\"undefined\")]\" and infer system\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Check \"undefined#de-DE\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Inferred CodeSystem = \"urn:ietf:bcp:47\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: CodeSystem found: urn:ietf:bcp:47|null for urn:ietf:bcp:47\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: check code in (urn:ietf:bcp:47) at \n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Code \"de-DE\" found in urn:ietf:bcp:47|null"}]}

#24

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"inferSystem","valueBoolean":true},{"name":"code","valueCode":"de-DE"},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"all-languages","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"fhir"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"normative"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-normative-version","valueCode":"4.0.0"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":5}],"url":"http://hl7.org/fhir/ValueSet/all-languages","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.21"}],"version":"4.0.1","name":"AllLanguages","title":"All Languages","status":"active","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"HL7 International - FHIR-Infrastructure","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set includes all possible codes from BCP-47 (http://tools.ietf.org/html/bcp47)","compose":{"include":[{"system":"urn:ietf:bcp:47"}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:45 GMT
etag:W/"52a-GF+0F6MCSrpxMzH4G01Q5B3HxpE"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112596

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"urn:ietf:bcp:47"},{"name":"code","valueCode":"de-DE"},{"name":"display","valueString":"German (Germany)"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Analysing http://hl7.org/fhir/ValueSet/all-languages|4.0.1 for validation purposes\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Prepare include[0]: \"(urn:ietf:bcp:47)\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: CodeSystem found: \"urn:ietf:bcp:47|null\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Validate \"[undefined#de-DE (\"undefined\")]\" and infer system\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Check \"undefined#de-DE\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Inferred CodeSystem = \"urn:ietf:bcp:47\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: CodeSystem found: urn:ietf:bcp:47|null for urn:ietf:bcp:47\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: check code in (urn:ietf:bcp:47) at \n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Code \"de-DE\" found in urn:ietf:bcp:47|null"}]}

#25

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"8670-2","display":"History of family member diseases"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:922
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:45 GMT
etag:W/"39a-9tOlcqVtHoj2/tDeUAIfESL0Dh8"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112597

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"8670-2"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"History of family member diseases"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"8670-2","display":"History of family member diseases"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#8670-2 (\"History of family member diseases\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#8670-2\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"8670-2\" found in http://loinc.org|2.82"}]}

#26

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"89243-0"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:729
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:45 GMT
etag:W/"2d9-+N0kFpWjlIh4Dmer80zREOAj5uQ"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112598

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"89243-0"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Karnofsky Performance Status score"},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#89243-0 (\"undefined\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#89243-0\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at Coding\n2ms http://loinc.org/vs|2.82: Code \"89243-0\" found in http://loinc.org|2.82"}]}

#27

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"35090-0","display":"Patient history"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:873
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:46 GMT
etag:W/"369-0s8KVH5TikBPGFmeGDbHYo9cShQ"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112599

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"35090-0"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Patient history"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"35090-0","display":"Patient history"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#35090-0 (\"Patient history\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#35090-0\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"35090-0\" found in http://loinc.org|2.82"}]}

#28

GET https://tx.fhir.org/r4/ValueSet/$validate-code?inferSystem=true&code=en-US&displayLanguage=en-US&default-to-latest-version=true&url=urn%3Auuid%3A278ecd6c-ead3-466a-b061-752e17f5c00b&valueSetVersion=1&x-system-cache-id=dc8fd4bc-091a-424a-8a3b-6198ef146891&diagnostics=true& HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:46 GMT
etag:W/"526-Gl7980Ik11kf79af2jy+xUmC+3o"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112600

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"urn:ietf:bcp:47"},{"name":"code","valueCode":"en-US"},{"name":"display","valueString":"English (United States)"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Analysing urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1 for validation purposes\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Prepare include[0]: \"(urn:ietf:bcp:47)\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: CodeSystem found: \"urn:ietf:bcp:47|null\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Validate \"[undefined#en-US (\"undefined\")]\" and infer system\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Check \"undefined#en-US\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Inferred CodeSystem = \"urn:ietf:bcp:47\"\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: CodeSystem found: urn:ietf:bcp:47|null for urn:ietf:bcp:47\n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: check code in (urn:ietf:bcp:47) at \n0ms urn:uuid:278ecd6c-ead3-466a-b061-752e17f5c00b|1: Code \"en-US\" found in urn:ietf:bcp:47|null"}]}

#29

GET https://tx.fhir.org/r4/ValueSet/$validate-code?inferSystem=true&code=en-US&displayLanguage=en-US&default-to-latest-version=true&url=http%3A%2F%2Fhl7.org%2Ffhir%2FValueSet%2Fall-languages&valueSetVersion=4.0.1&x-system-cache-id=dc8fd4bc-091a-424a-8a3b-6198ef146891&diagnostics=true& HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:46 GMT
etag:W/"531-XOsc4CZCxd9Gqc+RsTH5R0CxihM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112601

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"urn:ietf:bcp:47"},{"name":"code","valueCode":"en-US"},{"name":"display","valueString":"English (United States)"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Analysing http://hl7.org/fhir/ValueSet/all-languages|4.0.1 for validation purposes\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Prepare include[0]: \"(urn:ietf:bcp:47)\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: CodeSystem found: \"urn:ietf:bcp:47|null\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Validate \"[undefined#en-US (\"undefined\")]\" and infer system\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Check \"undefined#en-US\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Inferred CodeSystem = \"urn:ietf:bcp:47\"\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: CodeSystem found: urn:ietf:bcp:47|null for urn:ietf:bcp:47\n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: check code in (urn:ietf:bcp:47) at \n0ms http://hl7.org/fhir/ValueSet/all-languages|4.0.1: Code \"en-US\" found in urn:ietf:bcp:47|null"}]}

#30

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"111843-9","display":"Previous history cancer"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:902
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:47 GMT
etag:W/"386-6VRNmCi1IgvhcMLvuWoxcx/07A8"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112602

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"111843-9"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Previous history cancer"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"111843-9","display":"Previous history cancer"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#111843-9 (\"Previous history cancer\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#111843-9\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"111843-9\" found in http://loinc.org|2.82"}]}

#31

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399588009","display":"Pathologic TNM stage grouping"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:48 GMT
etag:W/"5d1-JIxmdLPnT9BzyomnFxBErsCtuNM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112603

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399588009"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"Pathologic TNM stage grouping"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399588009","display":"Pathologic TNM stage grouping"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#399588009 (\"Pathologic TNM stage grouping\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#399588009\"\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"399588009\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#32

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"104803-2","display":"Therapeutic intent [Interpretation] Narrative"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:968
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:48 GMT
etag:W/"3c8-rlm9E//zDV9Wces6qmi02G957EU"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112604

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"104803-2"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Therapeutic intent [Interpretation] Narrative"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"104803-2","display":"Therapeutic intent [Interpretation] Narrative"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#104803-2 (\"Therapeutic intent [Interpretation] Narrative\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#104803-2\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"104803-2\" found in http://loinc.org|2.82"}]}

#33

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"8664-5","display":"Cigarettes smoked total (pack per year) - Reported"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:973
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:49 GMT
etag:W/"3cd-tQEJwMO7ZJ9LbGVq+NN9ca5tLyE"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112605

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"8664-5"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Cigarettes smoked total (pack per year) - Reported"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"8664-5","display":"Cigarettes smoked total (pack per year) - Reported"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#8664-5 (\"Cigarettes smoked total (pack per year) - Reported\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#8664-5\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"8664-5\" found in http://loinc.org|2.82"}]}

#34

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"72166-2","display":"Tobacco smoking status"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:894
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:49 GMT
etag:W/"37e-er1F/4i5QmGNCXOKq/STKeRWeYo"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112607

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"72166-2"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Tobacco smoking status"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"72166-2","display":"Tobacco smoking status"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#72166-2 (\"Tobacco smoking status\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#72166-2\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"72166-2\" found in http://loinc.org|2.82"}]}

#35

GET https://tx.fhir.org/r4/ValueSet?_format=json&url=http%3A%2F%2Ffhir.org%2Fpackages%2Fde.medizininformatikinitiative.kerndatensatz.onkologie%2FImplementationGuide%2Fde.medizininformatikinitiative.kerndatensatz.onkologie HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
access-control-allow-credentials:true
connection:keep-alive
content-length:832
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:50 GMT
etag:W/"340-CPMfgusrdMyXCWfkqOc4lCX1yZ0"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112611

{"resourceType":"Bundle","type":"searchset","total":0,"link":[{"relation":"self","url":"https://tx.fhir.org/r4/ValueSet?_format=json&url=http%3A%2F%2Ffhir.org%2Fpackages%2Fde.medizininformatikinitiative.kerndatensatz.onkologie%2FImplementationGuide%2Fde.medizininformatikinitiative.kerndatensatz.onkologie&_offset=0"},{"relation":"first","url":"https://tx.fhir.org/r4/ValueSet?_format=json&url=http%3A%2F%2Ffhir.org%2Fpackages%2Fde.medizininformatikinitiative.kerndatensatz.onkologie%2FImplementationGuide%2Fde.medizininformatikinitiative.kerndatensatz.onkologie&_offset=0"},{"relation":"last","url":"https://tx.fhir.org/r4/ValueSet?_format=json&url=http%3A%2F%2Ffhir.org%2Fpackages%2Fde.medizininformatikinitiative.kerndatensatz.onkologie%2FImplementationGuide%2Fde.medizininformatikinitiative.kerndatensatz.onkologie&_offset=0"}]}

#36

GET https://tx.fhir.org/r4/ValueSet?_format=json&url=https%3A%2F%2Fwww.medizininformatik-initiative.de%2Ffhir%2Fext%2Fmodul-mtb%2FImplementationGuide%2Fmii-ig-mtb-de HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
access-control-allow-credentials:true
connection:keep-alive
content-length:664
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:50 GMT
etag:W/"298-1b1rpYX87jBLAAtJLZ12jSeiExg"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112617

{"resourceType":"Bundle","type":"searchset","total":0,"link":[{"relation":"self","url":"https://tx.fhir.org/r4/ValueSet?_format=json&url=https%3A%2F%2Fwww.medizininformatik-initiative.de%2Ffhir%2Fext%2Fmodul-mtb%2FImplementationGuide%2Fmii-ig-mtb-de&_offset=0"},{"relation":"first","url":"https://tx.fhir.org/r4/ValueSet?_format=json&url=https%3A%2F%2Fwww.medizininformatik-initiative.de%2Ffhir%2Fext%2Fmodul-mtb%2FImplementationGuide%2Fmii-ig-mtb-de&_offset=0"},{"relation":"last","url":"https://tx.fhir.org/r4/ValueSet?_format=json&url=https%3A%2F%2Fwww.medizininformatik-initiative.de%2Ffhir%2Fext%2Fmodul-mtb%2FImplementationGuide%2Fmii-ig-mtb-de&_offset=0"}]}

#37

GET https://tx.fhir.org/r4/ValueSet?_format=json&url=http%3A%2F%2Fwww.medizininformatik-initiative.de%2Ffhir%2Fext%2Fmodul-mtb%2FImplementationGuide%2Fmii-ig-mtb-de HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
access-control-allow-credentials:true
connection:keep-alive
content-length:661
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"urn:iso:std:iso:3166"},{"name":"code","valueCode":"Deutschland"},{"name":"message","valueString":"Code 'Deutschland' not found in filter set; The provided code 'urn:iso:std:iso:3166#Deutschland' was not found in the value set 'urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1'; Unknown code 'Deutschland' in the CodeSystem 'urn:iso:std:iso:3166' version '2018'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"code-invalid","details":{"text":"Unknown code 'Deutschland' in the CodeSystem 'urn:iso:std:iso:3166' version '2018'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-code"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"Unknown_Code_in_Version"}]},{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'urn:iso:std:iso:3166#Deutschland' was not found in the value set 'urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: Analysing urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1 for validation purposes\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: Prepare include[0]: \"(urn:iso:std:iso:3166)(coderegex[A-Z]{3})\"\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: CodeSystem found: \"urn:iso:std:iso:3166|2018\"\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: Validate \"[urn:iso:std:iso:3166#Deutschland (\"undefined\")]\"\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: Check \"urn:iso:std:iso:3166#Deutschland\"\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: CodeSystem found: urn:iso:std:iso:3166|2018 for urn:iso:std:iso:3166\n1ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: check code in (urn:iso:std:iso:3166)(coderegex[A-Z]{3}) at Coding\n2ms urn:uuid:4d95cc49-ae73-42c8-8430-ea7739583adc|1: Filter code regex [A-Z]{3}: Code \"Deutschland\" not found in urn:iso:std:iso:3166|2018: Code 'Deutschland' not found in filter set"}]}

#40

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"8500/3","display":"Infiltrating duct carcinoma, NOS"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:57 GMT
etag:W/"446-Rgt0+3scmYBTN6O62KaCRwsDVfM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112632

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"8500/3"},{"name":"version","valueString":"2000"},{"name":"display","valueString":"Infiltrating duct carcinoma, NOS"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3 (\"Infiltrating duct carcinoma, NOS\")]\"\n1ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3\"\n1ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3|2000\n1ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3) at Coding\n1ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: Code \"8500/3\" found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000"}]}

#41

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"8500/3"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0","version":"2026.0.1","status":"active","compose":{"include":[{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","filter":[{"property":"concept","op":"descendent-of","value":"M"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:57 GMT
etag:W/"c7e-pAoiIxid0dZaldU1BGbJNyUmC9M"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112633

{"resourceType":"Parameters","parameter":[{"name":"version","valueString":"2000"},{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"8500/3"},{"name":"display","valueString":"Infiltrating duct carcinoma, NOS"},{"name":"message","valueString":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: Prepare include[0]: \"(http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofM)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: CodeSystem found: \"http://terminology.hl7.org/CodeSystem/icd-o-3|2000\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3 (\"undefined\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofM) at Coding\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.1: Filter concept descendent-of M: Code \"8500/3\" not found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000"}]}

#42

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm&version=2025 HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:26:57 GMT
etag:W/"1787547769084"
last-modified:Tue, 06 Oct 2026 13:26:57 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:d5259e82-f66a-49dd-bb8f-590a572196ed
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:d5259e82-f66a-49dd-bb8f-590a572196ed
x-xss-protection:0

{"resourceType":"Bundle","id":"1440b599-9377-3f6f-8ea0-3769123e4db7","meta":{"lastUpdated":"2026-10-06T13:26:57.355+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":1,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Ficd-10-gm&version=2025"}],"entry":[{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/icd10gm-2025","resource":{"resourceType":"CodeSystem","id":"icd10gm-2025","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:00:12.364+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","identifier":[{"use":"official","system":"urn:ietf:rfc:3986","value":"urn:oid:1.2.276.0.76.5.548"},{"use":"old","system":"urn:ietf:rfc:3986","value":"http://fhir.de/CodeSystem/dimdi/icd-10-gm"},{"use":"official","system":"urn:ietf:rfc:3986","value":"https://terminologien.bfarm.de/fhir/CodeSystem/icd10gm"}],"version":"2025","name":"ICD10GM","title":"Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme","status":"active","experimental":false,"date":"2024-09-13","publisher":"BfArM","contact":[{"telecom":[{"system":"email","value":"klassi@bfarm.de"},{"system":"url","value":"https://www.bfarm.de"}]}],"caseSensitive":true,"valueSet":"http://fhir.de/ValueSet/bfarm/icd-10-gm|2025","hierarchyMeaning":"classified-with","compositional":true,"versionNeeded":true,"content":"complete","count":17089,"property":[{"code":"SexCode","description":"Geschlechtsbezug der Schlüsselnummer","type":"Coding"},{"code":"Infectious","description":"IfSG-Meldung kennzeichnet, dass bei Diagnosen, die mit dieser Schlüsselnummer kodiert sind, besonders auf die Arzt-Meldepflicht nach dem Infektionsschutzgesetz (IfSG) hinzuweisen ist","type":"Coding"},{"code":"Exotic","description":"Krankheit in Mitteleuropa sehr selten?","type":"Coding"},{"code":"parent","uri":"http://hl7.org/fhir/concept-properties#parent","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein übergeordnetes Konzept (Elternkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'parent' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"AgeHigh","description":"obere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten bis zu einem Alter von höchstens m vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"AgeLow","description":"untere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten ab einem Alter von mindestens n vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"AgeReject","description":"Art des Fehlers bei Altersbezug","type":"Coding"},{"code":"classKind","description":"Art der Klasse","type":"string"},{"code":"SexReject","description":"Art des Fehlers bei Geschlechtsbezug","type":"Coding"},{"code":"child","uri":"http://hl7.org/fhir/concept-properties#child","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein untergeordnetes Konzept (Kindkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'child' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"Content","description":"Schlüsselnummer mit Inhalt belegt?","type":"Coding"},{"code":"EBMLabor","description":"IfSG-Labor kennzeichnet, dass bei Laboruntersuchungen zu diesen Diagnosen die Laborausschlussziffer des EBM (32006) gewählt werden kann","type":"Coding"},{"code":"usage","description":"Art der Verwendung des Kodes","type":"string"},{"code":"Para295","description":"Verwendung der Schlüsselnummer nach Paragraph 295","type":"Coding"},{"code":"Para301","description":"Verwendung der Schlüsselnummer nach Paragraph 301","type":"Coding"}]}}]}

#43

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","version":"2025","code":"C50.2","display":"Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:26:57 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:3257ae3a-d826-46cc-881c-c73b99a1eaae
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:3257ae3a-d826-46cc-881c-c73b99a1eaae
x-xss-protection:0

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"code","valueCode":"C50.2"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2025"},{"name":"display","valueString":"Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"display-comment"}],"text":"'Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse' is the default display; the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm has no Display Names for the language en-US"},"location":["Coding.display"],"expression":["Coding.display"]}]}}]}

#44

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:936
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:57 GMT
etag:W/"3a8-TbuRJRzhQ7/XO1Rg819Fw/x/CYY"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112634

{"resourceType":"Parameters","parameter":[{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"result","valueBoolean":false},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"}]}

#45

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"76752008","display":"Breast structure"},{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"C50.2","display":"Upper-inner quadrant of breast"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:26:57 GMT
etag:W/"a7a-w0XD9341RvaUEXGVuZ4x5CVuCPw"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112636

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"76752008"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"Breast structure"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"76752008","display":"Breast structure"},{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"C50.2","display":"Upper-inner quadrant of breast"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"code-invalid","details":{"text":"Unknown Code 'C50.2' in the CodeSystem 'http://terminology.hl7.org/CodeSystem/icd-o-3' version '2000' - note that the code system is labeled as a fragment, so the code may be valid in some other fragment","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-code"}]},"expression":["CodeableConcept.coding[1].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODE_IN_FRAGMENT"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#76752008 (\"Breast structure\"), http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2 (\"Upper-inner quadrant of breast\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#76752008\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"76752008\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2\"\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Include for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 not considered for \"http://terminology.hl7.org/CodeSystem/icd-o-3\""}]}

#46

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","version":"2025","code":"C50.2","display":"Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"onconnect-vs-tb-oncotree","text":{"status":"generated","div":"<div>!-- Narrative removed --></div>"},"url":"http://oncotree.info/api/tumorTypes/ValueSet","version":"0.5.3","name":"ONCOnnect_VS_TB_OncoTree","title":"ONCOnnect OncoTree (ValueSet)","status":"draft","date":"2026-10-06T13:24:52+00:00","publisher":"ONCOnnect","contact":[{"name":"ONCOnnect","telecom":[{"system":"url","value":"https://ccc-onconnect.de/"}]}],"description":"ValueSet placeholder for tumor types based on the OncoTree classification. Includes all codes from the ONCOnnect_CS_TB_OncoTree code system.","compose":{"include":[{"system":"http://oncotree.info/api/tumorTypes"}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:26:58 GMT
etag:W/"ba0-tvF0Mql96IzvTr2o3PTQEkGq4v0"
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"x-unknown-system","valueCanonical":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"code","valueCode":"C50.2"},{"name":"version","valueString":"2025"},{"name":"message","valueString":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/icd-10-gm' version '2025' could not be found, so the code cannot be validated. No versions of this code system are known; The provided code 'http://fhir.de/CodeSystem/bfarm/icd-10-gm|2025#C50.2 ('Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse')' was not found in the value set 'http://oncotree.info/api/tumorTypes/ValueSet|0.5.3'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/icd-10-gm' version '2025' could not be found, so the code cannot be validated. No versions of this code system are known","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM_VERSION_NONE"}]},{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://fhir.de/CodeSystem/bfarm/icd-10-gm|2025#C50.2 ('Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse')' was not found in the value set 'http://oncotree.info/api/tumorTypes/ValueSet|0.5.3'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://fhir.de/CodeSystem/bfarm/icd-10-gm|2025#C50.2 (\"Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://fhir.de/CodeSystem/bfarm/icd-10-gm|2025#C50.2\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Include for http://oncotree.info/api/tumorTypes not considered for \"http://fhir.de/CodeSystem/bfarm/icd-10-gm|2025\""}]}

#47

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:26:58 GMT
etag:W/"753-wzv7b0/cy1Z2iBPN2l7luj28mwo"
server:nginx
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n1ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#48

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm&version=2020 HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:00 GMT
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server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
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x-powered-by:PleskLin
x-request-id:a8d98109-4967-444c-ac10-7aa5dbf0dccc
x-xss-protection:0

{"resourceType":"Bundle","id":"0824fba1-6be7-334c-b951-5b2b3073905e","meta":{"lastUpdated":"2026-10-06T13:27:00.091+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":0,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Ficd-10-gm&version=2020"}]}

#49

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:00 GMT
etag:W/"1787250035550"
last-modified:Tue, 06 Oct 2026 13:27:00 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
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x-content-type-options:nosniff
x-correlation-id:9199b45f-36f3-491c-8750-c2dc29f2401c
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:9199b45f-36f3-491c-8750-c2dc29f2401c
x-xss-protection:0

{"resourceType":"Bundle","id":"86c60855-c81f-3fdf-9a28-9eec8fc9836e","meta":{"lastUpdated":"2026-10-06T13:27:00.109+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":2,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Ficd-10-gm"}],"entry":[{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/icd10gm-2025","resource":{"resourceType":"CodeSystem","id":"icd10gm-2025","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:00:12.364+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","identifier":[{"use":"official","system":"urn:ietf:rfc:3986","value":"urn:oid:1.2.276.0.76.5.548"},{"use":"old","system":"urn:ietf:rfc:3986","value":"http://fhir.de/CodeSystem/dimdi/icd-10-gm"},{"use":"official","system":"urn:ietf:rfc:3986","value":"https://terminologien.bfarm.de/fhir/CodeSystem/icd10gm"}],"version":"2025","name":"ICD10GM","title":"Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme","status":"active","experimental":false,"date":"2024-09-13","publisher":"BfArM","contact":[{"telecom":[{"system":"email","value":"klassi@bfarm.de"},{"system":"url","value":"https://www.bfarm.de"}]}],"caseSensitive":true,"valueSet":"http://fhir.de/ValueSet/bfarm/icd-10-gm|2025","hierarchyMeaning":"classified-with","compositional":true,"versionNeeded":true,"content":"complete","count":17089,"property":[{"code":"SexCode","description":"Geschlechtsbezug der Schlüsselnummer","type":"Coding"},{"code":"Infectious","description":"IfSG-Meldung kennzeichnet, dass bei Diagnosen, die mit dieser Schlüsselnummer kodiert sind, besonders auf die Arzt-Meldepflicht nach dem Infektionsschutzgesetz (IfSG) hinzuweisen ist","type":"Coding"},{"code":"Exotic","description":"Krankheit in Mitteleuropa sehr selten?","type":"Coding"},{"code":"parent","uri":"http://hl7.org/fhir/concept-properties#parent","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein übergeordnetes Konzept (Elternkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'parent' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"AgeHigh","description":"obere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten bis zu einem Alter von höchstens m vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"AgeLow","description":"untere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten ab einem Alter von mindestens n vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"AgeReject","description":"Art des Fehlers bei Altersbezug","type":"Coding"},{"code":"classKind","description":"Art der Klasse","type":"string"},{"code":"SexReject","description":"Art des Fehlers bei Geschlechtsbezug","type":"Coding"},{"code":"child","uri":"http://hl7.org/fhir/concept-properties#child","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein untergeordnetes Konzept (Kindkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'child' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"Content","description":"Schlüsselnummer mit Inhalt belegt?","type":"Coding"},{"code":"EBMLabor","description":"IfSG-Labor kennzeichnet, dass bei Laboruntersuchungen zu diesen Diagnosen die Laborausschlussziffer des EBM (32006) gewählt werden kann","type":"Coding"},{"code":"usage","description":"Art der Verwendung des Kodes","type":"string"},{"code":"Para295","description":"Verwendung der Schlüsselnummer nach Paragraph 295","type":"Coding"},{"code":"Para301","description":"Verwendung der Schlüsselnummer nach Paragraph 301","type":"Coding"}]}},{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/icd10gm-2026","resource":{"resourceType":"CodeSystem","id":"icd10gm-2026","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:00:23.767+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","identifier":[{"use":"official","system":"urn:ietf:rfc:3986","value":"https://terminologien.bfarm.de/fhir/CodeSystem/icd10gm"},{"use":"official","system":"urn:ietf:rfc:3986","value":"urn:oid:1.2.276.0.76.5.554"},{"use":"old","system":"urn:ietf:rfc:3986","value":"http://fhir.de/CodeSystem/dimdi/icd-10-gm"}],"version":"2026","name":"ICD10GM","title":"Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme","status":"active","experimental":false,"date":"2025-09-12","publisher":"BfARM","contact":[{"telecom":[{"system":"email","value":"klassi@bfarm.de"},{"system":"url","value":"https://www.bfarm.de"}]}],"caseSensitive":true,"valueSet":"http://fhir.de/ValueSet/bfarm/icd-10-gm|2026","hierarchyMeaning":"classified-with","compositional":true,"versionNeeded":true,"content":"complete","count":17177,"property":[{"code":"Content","description":"Schlüsselnummer mit Inhalt belegt?","type":"Coding"},{"code":"Para301","description":"Verwendung der Schlüsselnummer nach Paragraph 301","type":"Coding"},{"code":"SexCode","description":"Geschlechtsbezug der Schlüsselnummer","type":"Coding"},{"code":"classKind","description":"Art der Klasse","type":"string"},{"code":"Para295","description":"Verwendung der Schlüsselnummer nach Paragraph 295","type":"Coding"},{"code":"child","uri":"http://hl7.org/fhir/concept-properties#child","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein untergeordnetes Konzept (Kindkonzept) handelt. 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Die Bedeutung von 'child' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"AgeHigh","description":"obere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten bis zu einem Alter von höchstens m vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"EBMLabor","description":"IfSG-Labor kennzeichnet, dass bei Laboruntersuchungen zu diesen Diagnosen die Laborausschlussziffer des EBM (32006) gewählt werden kann","type":"Coding"},{"code":"AgeReject","description":"Art des Fehlers bei Altersbezug","type":"Coding"},{"code":"Infectious","description":"IfSG-Meldung kennzeichnet, dass bei Diagnosen, die mit dieser Schlüsselnummer kodiert sind, besonders auf die Arzt-Meldepflicht nach dem Infektionsschutzgesetz (IfSG) hinzuweisen ist","type":"Coding"},{"code":"usage","description":"Art der Verwendung des Kodes","type":"string"},{"code":"SexReject","description":"Art des Fehlers bei Geschlechtsbezug","type":"Coding"},{"code":"AgeLow","description":"untere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten ab einem Alter von mindestens n vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"parent","uri":"http://hl7.org/fhir/concept-properties#parent","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein übergeordnetes Konzept (Elternkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'parent' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"Exotic","description":"Krankheit in Mitteleuropa sehr selten?","type":"Coding"}]}}]}

#50

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm&version=2021 HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:00 GMT
etag:W/"1787547769080"
last-modified:Tue, 06 Oct 2026 13:27:00 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
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x-powered-by:PleskLin
x-request-id:c9937742-6cdc-4678-a42a-2f452bbef600
x-xss-protection:0

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#51

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:00 GMT
etag:W/"1787250035550"
last-modified:Tue, 06 Oct 2026 13:27:00 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
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vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:11fa4066-fa5f-4ad4-928e-8aa45641a8c5
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:11fa4066-fa5f-4ad4-928e-8aa45641a8c5
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#52

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#53

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#54

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#55

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#56

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#57

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#58

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#59

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#60

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#61

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#62

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#63

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#64

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#65

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#66

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#67

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#68

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#69

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#70

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#71

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#72

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#73

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm HTTP/1.1
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#74

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#75

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#76

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#77

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#78

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#79

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x-request-id:tx-112640

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n1ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n1ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n1ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n1ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#80

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"76752008","display":"Breast structure"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-diagnose-bodystructure-snomed","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"https://www.medizininformatik-initiative.de/fhir/modul-meta/StructureDefinition/mii-ex-meta-license-codeable","valueCodeableConcept":{"coding":[{"system":"http://hl7.org/fhir/spdx-license","code":"CC-BY-4.0","display":"Creative Commons Attribution 4.0 International"}]}}],"url":"https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed","version":"2026.0.0","name":"MII_VS_Diagnose_BodyStructure_SNOMED","title":"MII VS Diagnose BodyStructure SNOMED","status":"active","experimental":true,"date":"2025-12-12","publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Enthaelt alle SNOMED Body structure codes","copyright":"This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of SNOMED International. All rights reserved. SNOMED CT®, was originally created by The College of American Pathologists. SNOMED and SNOMED CT are registered trademarks of SNOMED International. Implementers of these artefacts must have the appropriate SNOMED CT Affiliate license.","compose":{"include":[{"system":"http://snomed.info/sct","version":"http://snomed.info/sct/900000000000207008/version/20250701","filter":[{"property":"concept","op":"descendent-of","value":"123037004"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:00 GMT
etag:W/"fa2-JT+AXJ29oCuX/thUW90QdmFNTtQ"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112642

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250701"},{"name":"code","valueCode":"76752008"},{"name":"message","valueString":"A definition for CodeSystem 'http://snomed.info/sct' version 'http://snomed.info/sct/900000000000207008/version/20250701' could not be found, so the code cannot be validated. Valid versions: http://snomed.info/sct/11000146104/version/20240930, http://snomed.info/sct/2011000195101/version/20230607, http://snomed.info/sct/554471000005108/version/20260331, http://snomed.info/sct/731000124108/version/20230301, http://snomed.info/sct/731000124108/version/20240301, http://snomed.info/sct/731000124108/version/20250901, http://snomed.info/sct/827022005/version/20241216, http://snomed.info/sct/83821000000107/version/20230412, http://snomed.info/sct/900000000000207008/version/20240201, http://snomed.info/sct/900000000000207008/version/20250201 and http://snomed.info/xsct/31000003106/version/20250909"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://snomed.info/sct' version 'http://snomed.info/sct/900000000000207008/version/20250701' could not be found, so the code cannot be validated. Valid versions: http://snomed.info/sct/11000146104/version/20240930, http://snomed.info/sct/2011000195101/version/20230607, http://snomed.info/sct/554471000005108/version/20260331, http://snomed.info/sct/731000124108/version/20230301, http://snomed.info/sct/731000124108/version/20240301, http://snomed.info/sct/731000124108/version/20250901, http://snomed.info/sct/827022005/version/20241216, http://snomed.info/sct/83821000000107/version/20230412, http://snomed.info/sct/900000000000207008/version/20240201, http://snomed.info/sct/900000000000207008/version/20250201 and http://snomed.info/xsct/31000003106/version/20250909","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM_VERSION"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: Analysing https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: Prepare include[0]: \"(http://snomed.info/sct)(conceptdescendent-of123037004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: CodeSystem version http://snomed.info/sct/900000000000207008/version/20250701 not found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250701\"\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: Validate \"[http://snomed.info/sct#76752008 (\"Breast structure\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: Check \"http://snomed.info/sct#76752008\"\n1ms https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-bodystructure-snomed|2026.0.0: CodeSystem not found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250701"}]}

#81

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"C50.2"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69","version":"1","status":"active","compose":{"include":[{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","filter":[{"property":"concept","op":"descendent-of","value":"T"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"af9-FOS6OEjMGVlPjBqOz6MCkvG8UZo"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112643

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"C50.2"},{"name":"message","valueString":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2' was not found in the value set 'urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"code-invalid","details":{"text":"Unknown Code 'C50.2' in the CodeSystem 'http://terminology.hl7.org/CodeSystem/icd-o-3' version '2000' - note that the code system is labeled as a fragment, so the code may be valid in some other fragment","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-code"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODE_IN_FRAGMENT"}]},{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2' was not found in the value set 'urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Analysing urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1 for validation purposes\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Prepare include[0]: \"(http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofT)\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: CodeSystem found: \"http://terminology.hl7.org/CodeSystem/icd-o-3|2000\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2 (\"undefined\")]\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2\"\n1ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3\n1ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofT) at Coding\n1ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Filter concept descendent-of T: Code \"C50.2\" not found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000"}]}

#82

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"423740007"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"58d-C20V+GIuj5Crk59ts7eKht7giSs"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112644

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"423740007"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"ECOG performance status"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"423740007"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#423740007 (\"undefined\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#423740007\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"423740007\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#83

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"396432002","display":"Status of regression of tumor (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"5f9-I7Z1nuIpVK+04/SfLQzIs5ChQqU"
server:nginx
transfer-encoding:chunked
vary:Origin
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x-request-id:tx-112645

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"396432002"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"Status of regression of tumor"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"396432002","display":"Status of regression of tumor (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#396432002 (\"Status of regression of tumor (observable entity)\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#396432002\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"396432002\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#84

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"8500/3"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0","version":"2026.0.0","status":"active","compose":{"include":[{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","filter":[{"property":"concept","op":"descendent-of","value":"M"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"c7e-eKZV7PfhkdZc3xcO3PwTMoIh9EY"
server:nginx
transfer-encoding:chunked
vary:Origin
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x-request-id:tx-112646

{"resourceType":"Parameters","parameter":[{"name":"version","valueString":"2000"},{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"8500/3"},{"name":"display","valueString":"Infiltrating duct carcinoma, NOS"},{"name":"message","valueString":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: Prepare include[0]: \"(http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofM)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: CodeSystem found: \"http://terminology.hl7.org/CodeSystem/icd-o-3|2000\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3 (\"undefined\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#8500/3\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofM) at Coding\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-icdo3-morphologie--0|2026.0.0: Filter concept descendent-of M: Code \"8500/3\" not found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000"}]}

#85

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"C50.2"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"urn:uuid:36c54df6-289f-4deb-8885-a01725faa972","version":"1","status":"active","compose":{"include":[{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","filter":[{"property":"concept","op":"descendent-of","value":"T"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"af9-txTlcPhxq97R7SkIsny+YVMf15Y"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112647

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"C50.2"},{"name":"message","valueString":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2' was not found in the value set 'urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"code-invalid","details":{"text":"Unknown Code 'C50.2' in the CodeSystem 'http://terminology.hl7.org/CodeSystem/icd-o-3' version '2000' - note that the code system is labeled as a fragment, so the code may be valid in some other fragment","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-code"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODE_IN_FRAGMENT"}]},{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2' was not found in the value set 'urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: Analysing urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1 for validation purposes\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: Prepare include[0]: \"(http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofT)\"\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: CodeSystem found: \"http://terminology.hl7.org/CodeSystem/icd-o-3|2000\"\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2 (\"undefined\")]\"\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#C50.2\"\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofT) at Coding\n0ms urn:uuid:36c54df6-289f-4deb-8885-a01725faa972|1: Filter concept descendent-of T: Code \"C50.2\" not found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000"}]}

#86

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
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content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"5c3-oim1e9VSGEAu1TMhZqiSnAm1v1Y"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112648

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"384625004"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"pT category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#384625004 (\"pT category (observable entity)\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#384625004\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"384625004\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#87

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-t-kategorie","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie","version":"2026.0.1","name":"MII_VS_Onko_TNM_T_Kategorie","title":"MII VS Onkologie TNM T Kategorie","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Codes für Codes zur Differenzierung der TNM T-Kategorie als entweder klinisch (cT) oder pathologisch (pT)","compose":{"include":[{"system":"http://snomed.info/sct","concept":[{"code":"78873005","display":"T category (observable entity)"},{"code":"399504009","display":"cT category (observable entity)"},{"code":"384625004","display":"pT category (observable entity)"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"97d-4lrkzUk6Yy/cNWwRhAUKbOMYf2Y"
server:nginx
transfer-encoding:chunked
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"384625004"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"pT category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#384625004 (\"pT category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://snomed.info/sct#384625004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: check code in (http://snomed.info/sct)(78873005,399504009,384625004) at CodeableConcept.coding[0]\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Code \"384625004\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#88

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
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content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:01 GMT
etag:W/"5c3-xvA54nFq8rUJBgeK5TbpwJLh4bs"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112650

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399534004"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"cN category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#399534004 (\"cN category (observable entity)\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#399534004\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"399534004\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#89

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-n-kategorie","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie","version":"2026.0.1","name":"MII_VS_Onko_TNM_N_Kategorie","title":"MII VS Onkologie TNM N Kategorie","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Codes für Codes zur Differenzierung der TNM N-Kategorie als entweder klinisch (cN) oder pathologisch (pN)","compose":{"include":[{"system":"http://snomed.info/sct","concept":[{"code":"277206009","display":"N category (observable entity)"},{"code":"399534004","display":"cN category (observable entity)"},{"code":"371494008","display":"pN category (observable entity)"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:02 GMT
etag:W/"97f-3WS2gmbMb8TRDcv/joyp6CE74Og"
server:nginx
transfer-encoding:chunked
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399534004"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"cN category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399534004 (\"cN category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://snomed.info/sct#399534004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277206009,399534004,371494008) at CodeableConcept.coding[0]\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Code \"399534004\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#90

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399387003","display":"cM category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:02 GMT
etag:W/"5c3-vXbynL1lJi9ejBDzCkOPHVLhgqY"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112652

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399387003"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"cM category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399387003","display":"cM category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#399387003 (\"cM category (observable entity)\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#399387003\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"399387003\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#91

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399387003"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"cM category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399387003","display":"cM category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399387003 (\"cM category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://snomed.info/sct#399387003\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277208005,399387003,371497001) at CodeableConcept.coding[0]\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Code \"399387003\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#92

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200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399588009"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"Pathologic TNM stage grouping"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399588009","display":"Pathologic TNM stage grouping"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://snomed.info/sct#399588009 (\"Pathologic TNM stage grouping\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://snomed.info/sct#399588009\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: check code in (http://snomed.info/sct)(399390009,399537006,399588009) at CodeableConcept.coding[0]\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Code \"399588009\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#93

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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#94

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#384625004 ('pT category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#384625004 (\"pT category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://snomed.info/sct#384625004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277206009,399534004,371494008) at CodeableConcept.coding[0]"}]}

#95

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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x-powered-by:Express
x-request-id:tx-112660

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399534004 ('cN category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399534004 (\"cN category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://snomed.info/sct#399534004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277208005,399387003,371497001) at CodeableConcept.coding[0]"}]}

#96

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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server:nginx
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x-powered-by:Express
x-request-id:tx-112661

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399534004 ('cN category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399534004 (\"cN category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://snomed.info/sct#399534004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: check code in (http://snomed.info/sct)(78873005,399504009,384625004) at CodeableConcept.coding[0]"}]}

#97

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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server:nginx
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x-request-id:tx-112663

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#98

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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connection:keep-alive
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date:Tue, 06 Oct 2026 13:27:03 GMT
etag:W/"d2a-iE9WrfZZFsamNYvW6clOrg8yp00"
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399387003","display":"cM category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399387003 ('cM category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399387003 (\"cM category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://snomed.info/sct#399387003\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: check code in (http://snomed.info/sct)(78873005,399504009,384625004) at CodeableConcept.coding[0]"}]}

#99

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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200
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x-powered-by:Express
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA15920-4","display":"Former smoker","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#LA15920-4 ('Former smoker')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Prepare include[0]: \"(https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention)(K,P,D,R,S,X)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: CodeSystem found: \"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Validate \"[http://loinc.org#LA15920-4 (\"Former smoker\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Check \"http://loinc.org#LA15920-4\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Include for https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention not considered for \"http://loinc.org\""}]}

#100

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA15920-4","display":"Former smoker"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:877
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:03 GMT
etag:W/"36d-8l2f4MtuTXU4ZwzTq4fELlhgE4I"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112666

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"LA15920-4"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Former smoker"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA15920-4","display":"Former smoker"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#LA15920-4 (\"Former smoker\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#LA15920-4\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"LA15920-4\" found in http://loinc.org|2.82"}]}

#101

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA15920-4","display":"Former smoker"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"current-smoking-status-uv-ips","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips","identifier":[{"use":"official","system":"http://art-decor.org/ns/oids/vs","value":"2.16.840.1.113883.11.22.59"}],"version":"1.1.0","name":"CurrentSmokingStatusUvIps","title":"Current Smoking Status - IPS","status":"active","experimental":false,"publisher":"HL7 International / Patient Care","contact":[{"telecom":[{"system":"url","value":"http://www.hl7.org/Special/committees/patientcare"}]}],"description":"HL7 LOINC value set for smoking status.  Based on the HL7 Vocab and Structured Doc WG (formerly TC) consensus - per US CDC submission 7/12/2012 for smoking status terms.","jurisdiction":[{"coding":[{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}]}],"immutable":false,"copyright":"This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc","compose":{"include":[{"system":"http://loinc.org","concept":[{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":1}],"code":"LA18976-3","display":"Current every day smoker"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":2}],"code":"LA18977-1","display":"Current some day smoker"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":3}],"code":"LA15920-4","display":"Former smoker"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":4}],"code":"LA18978-9","display":"Never smoker"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":5}],"code":"LA18979-7","display":"Smoker, current status unknown"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":6}],"code":"LA18980-5","display":"Unknown if ever smoked"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":7}],"code":"LA18981-3","display":"Heavy tobacco smoker"},{"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/ordinalValue","valueDecimal":8}],"code":"LA18982-1","display":"Light tobacco smoker"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:03 GMT
etag:W/"745-h4xpv+z2rlQRWQGOBZqO3TkZWH4"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112667

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"LA15920-4"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Former smoker"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA15920-4","display":"Former smoker"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: Analysing https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0 for validation purposes\n0ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: Prepare include[0]: \"(http://loinc.org)(LA18976-3,LA18977-1,LA15920-4,LA18978-9,LA18979-7,LA18980-5,LA18981-3,LA18982-1)\"\n1ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: CodeSystem found: \"http://loinc.org|2.82\"\n1ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: Validate \"[http://loinc.org#LA15920-4 (\"Former smoker\")]\"\n1ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: Check \"http://loinc.org#LA15920-4\"\n2ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: CodeSystem found: http://loinc.org|2.82 for http://loinc.org\n2ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: check code in (http://loinc.org)(LA18976-3,LA18977-1,LA15920-4,LA18978-9,LA18979-7,LA18980-5,LA18981-3,LA18982-1) at CodeableConcept.coding[0]\n2ms https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips|1.1.0: Code \"LA15920-4\" found in http://loinc.org|2.82"}]}

#102

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops&version=2025 HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:04 GMT
etag:W/"1787239408445"
last-modified:Tue, 06 Oct 2026 13:27:03 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:15ae3ef6-30f3-4627-99b1-b9711e578ded
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:15ae3ef6-30f3-4627-99b1-b9711e578ded
x-xss-protection:0

{"resourceType":"Bundle","id":"bddf4544-8e3f-3eae-8487-777a0b05eb97","meta":{"lastUpdated":"2026-10-06T13:27:03.999+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":1,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Fops&version=2025"}],"entry":[{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/ops-2025","resource":{"resourceType":"CodeSystem","id":"ops-2025","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:00:34.628+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/ops","identifier":[{"use":"official","system":"urn:ietf:rfc:3986","value":"https://terminologien.bfarm.de/fhir/CodeSystem/ops"},{"use":"old","system":"urn:ietf:rfc:3986","value":"http://fhir.de/CodeSystem/dimdi/ops"},{"use":"official","system":"urn:ietf:rfc:3986","value":"urn:oid:1.2.276.0.76.5.549"}],"version":"2025","name":"OPS","title":"Operationen- und Prozedurenschlüssel","status":"active","experimental":false,"date":"2024-10-18","publisher":"BfArM","contact":[{"telecom":[{"system":"email","value":"klassi@bfarm.de"},{"system":"url","value":"https://www.bfarm.de"}]}],"caseSensitive":true,"valueSet":"http://fhir.de/ValueSet/bfarm/ops|2025","hierarchyMeaning":"classified-with","compositional":true,"versionNeeded":true,"content":"complete","count":38698,"property":[{"code":"classKind","description":"Art der Klasse","type":"string"},{"code":"usage","description":"Art der Verwendung des Kodes","type":"string"},{"code":"child","uri":"http://hl7.org/fhir/concept-properties#child","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein untergeordnetes Konzept (Kindkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'child' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"parent","uri":"http://hl7.org/fhir/concept-properties#parent","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein übergeordnetes Konzept (Elternkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'parent' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"ZusatzK","description":"Zusatzkodes sind Kodes, die gemäß den Klassentiteln und Hinweisen im OPS nur zusätzlich zu einem Primärkode angegeben werden dürfen. Nur endständige Kodes können negativ mit 'N' oder positiv mit 'J' gekennzeichnet sein.","type":"Coding"},{"code":"P17b-d","description":"Gültigkeit nach § 17b und/oder § 17d KHG. Im § 17b KHG ist die Einführung eines pauschalierenden Entgeltsystems für DRG-Krankenhäuser und in § 17d KHG die Einführung eines pauschalierenden Entgeltsystems für psychiatrische und psychosomatische Einrichtungen gesetzlich geregelt.","type":"Coding"},{"code":"EinmalK","description":"Einmalkodes sind Kodes, die gemäß den Hinweisen im OPS nur einmal pro stationären Aufenthalt anzugeben sind. Nur endständige Kodes können negativ mit 'N' oder positiv mit 'J' gekennzeichnet sein.","type":"Coding"}]}}]}

#103

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2025","code":"8-524.3","display":"Brachytherapie mit umschlossenen Radionukliden: Körperoberfläche"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:04 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:441163cc-2f46-42da-b9d8-863260420955
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x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:441163cc-2f46-42da-b9d8-863260420955
x-xss-protection:0

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"code","valueCode":"8-524.3"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/ops"},{"name":"version","valueString":"2025"},{"name":"display","valueString":"Brachytherapie mit umschlossenen Radionukliden: Körperoberfläche"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"display-comment"}],"text":"'Brachytherapie mit umschlossenen Radionukliden: Körperoberfläche' is the default display; the code system http://fhir.de/CodeSystem/bfarm/ops has no Display Names for the language en-US"},"location":["Coding.display"],"expression":["Coding.display"]}]}}]}

#104

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops&version=2019 HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:05 GMT
etag:W/"1787239408336"
last-modified:Tue, 06 Oct 2026 13:27:05 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:689cee85-6a95-4111-88e3-ef0c1a07599b
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:689cee85-6a95-4111-88e3-ef0c1a07599b
x-xss-protection:0

{"resourceType":"Bundle","id":"8fb35ddf-cba5-33e7-9b42-82fe3c4b9cd5","meta":{"lastUpdated":"2026-10-06T13:27:05.981+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":0,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Fops&version=2019"}]}

#105

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:06 GMT
etag:W/"1789236002557"
last-modified:Tue, 06 Oct 2026 13:27:05 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
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x-content-type-options:nosniff
x-correlation-id:10b23025-c9f4-46cb-91fb-f60c1a6f417b
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:10b23025-c9f4-46cb-91fb-f60c1a6f417b
x-xss-protection:0

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#106

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#107

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#108

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#109

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops HTTP/1.1
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#110

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#111

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops HTTP/1.1
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#112

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#113

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#114

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#115

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#116

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops&version=2022 HTTP/1.1
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#117

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#118

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#119

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#120

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#121

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#122

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#123

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#124

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#125

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#126

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#127

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#128

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#129

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#130

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#131

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#132

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#133

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2fops HTTP/1.1
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200
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#134

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#135

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
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200
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#136

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2025","code":"5-524.2","display":"Partielle Resektion des Pankreas: Pankreaskopfresektion, pyloruserhaltend"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

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#137

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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#138

POST https://tx.fhir.de/fhir/ValueSet/$validate-code? HTTP/1.1
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200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"5-524.2"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/ops"},{"name":"version","valueString":"2025"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"vs-invalid"}],"text":"Unable to check whether the code is in the value set 'https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/mii-vs-prozedur-ops|2026.0.0' because the code system http://fhir.de/CodeSystem/bfarm/ops|2025 was not found"}},{"severity":"error","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}],"text":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/ops' version '2025' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]"},"location":["Coding.system"],"expression":["Coding.system"]}]}},{"name":"x-caused-by-unknown-system","valueCanonical":"http://fhir.de/CodeSystem/bfarm/ops|2024"},{"name":"message","valueString":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/ops' version '2025' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]; Unable to check whether the code is in the value set 'https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/mii-vs-prozedur-ops|2026.0.0' because the code system http://fhir.de/CodeSystem/bfarm/ops|2025 was not found"}]}

#139

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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#140

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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#141

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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x-request-id:tx-112684

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"396432002","display":"Status of regression of tumor (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#396432002 ('Status of regression of tumor (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://snomed.info/sct#396432002 (\"Status of regression of tumor (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://snomed.info/sct#396432002\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: check code in (http://snomed.info/sct)(399390009,399537006,399588009) at CodeableConcept.coding[0]"}]}

#142

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:07 GMT
etag:W/"d80-vU3+WVROYF3PIFtH6oAXYWJKKSM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112685

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"384625004","display":"pT category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#384625004 ('pT category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://snomed.info/sct#384625004 (\"pT category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://snomed.info/sct#384625004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: check code in (http://snomed.info/sct)(399390009,399537006,399588009) at CodeableConcept.coding[0]"}]}

#143

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:07 GMT
etag:W/"d80-Gb64/+FrWI5AlRwSnTqpFYr6AWo"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112686

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399534004","display":"cN category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399534004 ('cN category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://snomed.info/sct#399534004 (\"cN category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://snomed.info/sct#399534004\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: check code in (http://snomed.info/sct)(399390009,399537006,399588009) at CodeableConcept.coding[0]"}]}

#144

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399387003","display":"cM category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:07 GMT
etag:W/"d80-B67jenbLhGgOyd1gQuH5j2DUlhk"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112688

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399387003","display":"cM category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399387003 ('cM category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://snomed.info/sct#399387003 (\"cM category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://snomed.info/sct#399387003\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: check code in (http://snomed.info/sct)(399390009,399537006,399588009) at CodeableConcept.coding[0]"}]}

#145

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"72166-2","display":"Tobacco smoking status"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:07 GMT
etag:W/"bfd-pBChieSq3r6bYZ15LEKvZ68/zm4"
server:nginx
transfer-encoding:chunked
vary:Origin
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x-request-id:tx-112690

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#146

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#147

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#148

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#149

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#150

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#151

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http://hl7.org/fhir/ValueSet/c80-doc-typecodes|4.0.1: CodeSystem found: \"http://loinc.org|2.82\"\n4ms http://hl7.org/fhir/ValueSet/c80-doc-typecodes|4.0.1: Validate \"[http://loinc.org#55229-9 (\"Immune stain study\")]\"\n5ms http://hl7.org/fhir/ValueSet/c80-doc-typecodes|4.0.1: Check \"http://loinc.org#55229-9\"\n6ms http://hl7.org/fhir/ValueSet/c80-doc-typecodes|4.0.1: CodeSystem found: http://loinc.org|2.82 for http://loinc.org\n6ms http://hl7.org/fhir/ValueSet/c80-doc-typecodes|4.0.1: check code in 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#152

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#153

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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"421188008"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"r"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#421188008\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"421188008\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#154

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:975
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:09 GMT
etag:W/"3cf-32X1me1x27SeS8q6pvAi3uxFr3w"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112699

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"42030-7"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Multiple tumors reported as single primary Cancer"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#42030-7 (\"Multiple tumors reported as single primary Cancer\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#42030-7\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"42030-7\" found in http://loinc.org|2.82"}]}

#155

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:09 GMT
etag:W/"5c3-UG/5krxeUZUYBJ6bUnDT9OplU6g"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112700

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399504009"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"cT category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#399504009 (\"cT category (observable entity)\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#399504009\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"399504009\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#156

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:10 GMT
etag:W/"97d-7WlRebDL1WwkGW8JVZH9VFPCooU"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112701

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"399504009"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"cT category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399504009 (\"cT category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://snomed.info/sct#399504009\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: check code in (http://snomed.info/sct)(78873005,399504009,384625004) at CodeableConcept.coding[0]\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Code \"399504009\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#157

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:10 GMT
etag:W/"5c3-FaK4lD03jMF5ukRsa4mIIdu5MrU"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112702

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"371497001"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"pM category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#371497001 (\"pM category (observable entity)\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#371497001\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n1ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"371497001\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#158

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:10 GMT
etag:W/"97f-Xg+bcArvQT+h56ySScSWdxmPWJw"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112703

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"371497001"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"pM category"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#371497001 (\"pM category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://snomed.info/sct#371497001\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277208005,399387003,371497001) at CodeableConcept.coding[0]\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Code \"371497001\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#159

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-l-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_L_Kategorie_Werte","title":"MII VS Onkologie TNM L Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM Codes für die Beurteilung der Lymphgefäßinvasion aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"L0","display":"L0"},{"code":"L1","display":"L1"},{"code":"LX","display":"LX"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:10 GMT
etag:W/"bec-0+okHOgkpwFSqUke6a4T4JXc3C4"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112704

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(L0,L1,LX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#160

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101659-1 ('Cancer staging after tumor recurrence')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://loinc.org#101659-1 (\"Cancer staging after tumor recurrence\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://loinc.org#101659-1\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#161

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-m-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_M_Kategorie_Werte","title":"MII VS Onkologie TNM M Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM M-Kategorie Codes aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"M0","display":"M0"},{"code":"M1","display":"M1"},{"code":"M1a","display":"M1a"},{"code":"M1b","display":"M1b"},{"code":"M1c","display":"M1c"},{"code":"M1d","display":"M1d"},{"code":"MX","display":"MX"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(M0,M1,M1a,M1b,M1c,M1d,MX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#162

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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date:Tue, 06 Oct 2026 13:27:10 GMT
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x-request-id:tx-112707

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(m,2,3,4,5,6,7,8,9,10)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#163

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:10 GMT
etag:W/"be1-bO4f9gWiw5V8jAb9Wm5jKO5leAs"
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101659-1 ('Cancer staging after tumor recurrence')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://loinc.org#101659-1 (\"Cancer staging after tumor recurrence\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://loinc.org#101659-1\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#164

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-n-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_N_Kategorie_Werte","title":"MII VS Onkologie TNM N Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM N-Kategorie Codes aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"NX","display":"Nx"},{"code":"N0","display":"N0"},{"code":"N1","display":"N1"},{"code":"N1mi","display":"N1(mi)"},{"code":"N1a","display":"N1a"},{"code":"N1b","display":"N1b"},{"code":"N1c","display":"N1c"},{"code":"N2","display":"N2"},{"code":"N2a","display":"N2a"},{"code":"N2b","display":"N2b"},{"code":"N2c","display":"N2c"},{"code":"N3","display":"N3"},{"code":"N3a","display":"N3a"},{"code":"N3b","display":"N3b"},{"code":"N3c","display":"N3c"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:11 GMT
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server:nginx
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x-request-id:tx-112709

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#165

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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x-request-id:tx-112710

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101659-1 ('Cancer staging after tumor recurrence')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://loinc.org#101659-1 (\"Cancer staging after tumor recurrence\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://loinc.org#101659-1\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#166

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-t-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_T_Kategorie_Werte","title":"MII VS Onkologie TNM T Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM T-Kategorie Codes aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"TX","display":"TX"},{"code":"T0","display":"T0"},{"code":"Ta","display":"Ta"},{"code":"Tis","display":"Tis"},{"code":"Tis(LAMN)","display":"Tis(LAMN)"},{"code":"Tis(DCIS)","display":"Tis(DCIS)"},{"code":"Tis(LCIS)","display":"Tis(LCIS)"},{"code":"Tis(Paget)","display":"Tis(Paget)"},{"code":"Tis(pu)","display":"Tis(pu)"},{"code":"Tis(pd)","display":"Tis(pd)"},{"code":"T1","display":"T1"},{"code":"T1mi","display":"T1mi"},{"code":"T1a","display":"T1a"},{"code":"T1a1","display":"T1a1"},{"code":"T1a2","display":"T1a2"},{"code":"T1b","display":"T1b"},{"code":"T1b1","display":"T1b1"},{"code":"T1b2","display":"T1b2"},{"code":"T1c","display":"T1c"},{"code":"T1c1","display":"T1c1"},{"code":"T1c2","display":"T1c2"},{"code":"T1c3","display":"T1c3"},{"code":"T1d","display":"T1d"},{"code":"T2","display":"T2"},{"code":"T2a","display":"T2a"},{"code":"T2a1","display":"T2a1"},{"code":"T2a2","display":"T2a2"},{"code":"T2b","display":"T2b"},{"code":"T2c","display":"T2c"},{"code":"T2d","display":"T2d"},{"code":"T3","display":"T3"},{"code":"T3a","display":"T3a"},{"code":"T3b","display":"T3b"},{"code":"T3c","display":"T3c"},{"code":"T3d","display":"T3d"},{"code":"T3e","display":"T3e"},{"code":"T4","display":"T4"},{"code":"T4a","display":"T4a"},{"code":"T4b","display":"T4b"},{"code":"T4c","display":"T4c"},{"code":"T4d","display":"T4d"},{"code":"T4e","display":"T4e"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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x-request-id:tx-112711

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#167

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-pn-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_Pn_Kategorie_Werte","title":"MII VS Onkologie TNM Pn Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM Codes für den Grad der perineuralen Invasion aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"Pn0","display":"Pn0"},{"code":"Pn1","display":"Pn1"},{"code":"PnX","display":"PnX"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:11 GMT
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x-request-id:tx-112714

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(Pn0,Pn1,PnX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#168

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-s-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_S_Kategorie_Werte","title":"MII VS Onkologie TNM S Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM Codes für Serumtumormarker aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"S0","display":"S0"},{"code":"S1","display":"S1"},{"code":"S2","display":"S2"},{"code":"S3","display":"S3"},{"code":"SX","display":"SX"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:11 GMT
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server:nginx
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x-powered-by:Express
x-request-id:tx-112715

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(S0,S1,S2,S3,SX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#169

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-tnm-v-kategorie-werte","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte","version":"2026.0.1","name":"MII_VS_Onko_TNM_V_Kategorie_Werte","title":"MII VS Onkologie TNM V Kategorie Werte","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Das ValueSet enthält die TNM Codes für die Beurteilung der Veneninvasion aus der UICC TNM - Klassifikation maligner Tumoren Achte Auflage.","compose":{"include":[{"system":"https://www.uicc.org/resources/tnm","concept":[{"code":"V0","display":"V0"},{"code":"V1","display":"V1"},{"code":"V2","display":"V2"},{"code":"VX","display":"VX"}]}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
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date:Tue, 06 Oct 2026 13:27:11 GMT
etag:W/"bef-UquKIdBHnxTDkigQvZ576MUjDb8"
server:nginx
transfer-encoding:chunked
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x-powered-by:Express
x-request-id:tx-112716

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(V0,V1,V2,VX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#170

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:11 GMT
etag:W/"c01-ZwMuU9FT6jLBjdEnC3oX5DYYxb8"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112717

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#42030-7 ('Multiple tumors reported as single primary Cancer')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://loinc.org#42030-7 (\"Multiple tumors reported as single primary Cancer\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://loinc.org#42030-7\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#171

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

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200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:11 GMT
etag:W/"c01-V3HOKa2YPyQ0ZlX4xTY+Brk8cs8"
server:nginx
transfer-encoding:chunked
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x-powered-by:Express
x-request-id:tx-112718

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#42030-7 ('Multiple tumors reported as single primary Cancer')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://loinc.org#42030-7 (\"Multiple tumors reported as single primary Cancer\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://loinc.org#42030-7\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#172

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:12 GMT
etag:W/"c00-mf+tb+fXBzKnOs0v/XEglvHq3Cg"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112719

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#42030-7 ('Multiple tumors reported as single primary Cancer')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://loinc.org#42030-7 (\"Multiple tumors reported as single primary Cancer\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://loinc.org#42030-7\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#173

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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200
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x-request-id:tx-112720

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399504009 ('cT category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399504009 (\"cT category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://snomed.info/sct#399504009\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277208005,399387003,371497001) at CodeableConcept.coding[0]"}]}

#174

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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200
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server:nginx
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x-powered-by:Express
x-request-id:tx-112721

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#399504009 ('cT category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#399504009 (\"cT category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://snomed.info/sct#399504009\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277206009,399534004,371494008) at CodeableConcept.coding[0]"}]}

#175

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:12 GMT
etag:W/"d2c-w40oesAQtLC2o1LopHz1nqOT0QM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112723

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#371497001 ('pM category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#371497001 (\"pM category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://snomed.info/sct#371497001\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: check code in (http://snomed.info/sct)(277206009,399534004,371494008) at CodeableConcept.coding[0]"}]}

#176

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:12 GMT
etag:W/"d2a-jKsMm/AH/m4q8wl4HZ9dfA6sXJc"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112724

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"371497001","display":"pM category (observable entity)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#371497001 ('pM category (observable entity)')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://snomed.info/sct#371497001 (\"pM category (observable entity)\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://snomed.info/sct#371497001\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: check code in (http://snomed.info/sct)(78873005,399504009,384625004) at CodeableConcept.coding[0]"}]}

#177

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:12 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112725

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#178

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:12 GMT
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#179

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"394593009","display":"Medical oncology (qualifier value)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"condition-category","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"pc"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":3}],"url":"http://hl7.org/fhir/ValueSet/condition-category","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.162"}],"version":"4.0.1","name":"ConditionCategoryCodes","title":"Condition Category Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"Preferred value set for Condition Categories.","immutable":true,"compose":{"include":[{"system":"http://terminology.hl7.org/CodeSystem/condition-category"}]}}},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"condition-category","meta":{"lastUpdated":"2024-04-24T00:00:00+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"pc"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":3}],"url":"http://terminology.hl7.org/CodeSystem/condition-category","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.1.1073"}],"version":"2.0.0","name":"ConditionCategoryCodes","title":"Condition Category Codes","status":"active","experimental":false,"date":"2026-09-22T02:12:35+10:00","publisher":"Health Level Seven International","contact":[{"telecom":[{"system":"url","value":"http://hl7.org"},{"system":"email","value":"hq@HL7.org"}]}],"description":"Preferred value set for Condition Categories.","copyright":"This material derives from the HL7 Terminology (THO). THO is copyright ©1989+ Health Level Seven International and is made available under the CC0 designation. For more licensing information see: https://terminology.hl7.org/license","caseSensitive":true,"valueSet":"http://terminology.hl7.org/ValueSet/condition-category","content":"complete","concept":[{"code":"problem-list-item","display":"Problem List Item","definition":"An item on a problem list that can be managed over time and can be expressed by a practitioner (e.g. physician, nurse), patient, or related person."},{"code":"encounter-diagnosis","display":"Encounter Diagnosis","definition":"A point in time diagnosis (e.g. from a physician or nurse) in context of an encounter."},{"code":"diagnostic-report-impression","display":"Diagnostic Report Impression","definition":"A diagnosis or differential diagnosis item that is expressed in a diagnostic report."}]}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'http://hl7.org/fhir/ValueSet/condition-category|4.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"394593009","display":"Medical oncology (qualifier value)","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#394593009 ('Medical oncology (qualifier value)')' was not found in the value set 'http://hl7.org/fhir/ValueSet/condition-category|4.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'http://hl7.org/fhir/ValueSet/condition-category|4.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: Analysing http://hl7.org/fhir/ValueSet/condition-category|4.0.1 for validation purposes\n0ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: Prepare include[0]: \"(http://terminology.hl7.org/CodeSystem/condition-category)\"\n0ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: CodeSystem found: \"http://terminology.hl7.org/CodeSystem/condition-category|2.0.0\"\n0ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: Validate \"[http://snomed.info/sct#394593009 (\"Medical oncology (qualifier value)\")]\"\n1ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: Check \"http://snomed.info/sct#394593009\"\n1ms http://hl7.org/fhir/ValueSet/condition-category|4.0.1: Include for http://terminology.hl7.org/CodeSystem/condition-category not considered for \"http://snomed.info/sct\""}]}

#180

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","version":"2013","code":"C50.9"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:13 GMT
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x-correlation-id:8221090c-7a48-49d8-94ff-48e6d6a1dd03
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x-powered-by:PleskLin
x-request-id:8221090c-7a48-49d8-94ff-48e6d6a1dd03
x-xss-protection:0

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"C50.9"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2013"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"vs-invalid"}],"text":"Unable to check whether the code is in the value set '' because the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm|2013 was not found"}},{"severity":"error","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}],"text":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/icd-10-gm' version '2013' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]"},"location":["Coding.system"],"expression":["Coding.system"]}]}},{"name":"x-caused-by-unknown-system","valueCanonical":"http://fhir.de/CodeSystem/bfarm/icd-10-gm|2013"},{"name":"message","valueString":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/icd-10-gm' version '2013' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]; Unable to check whether the code is in the value set '' because the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm|2013 was not found"}]}

#181

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"C50.9","display":"Breast, NOS"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:13 GMT
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"C50.9"},{"name":"version","valueString":"2000"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"code-invalid","details":{"text":"Unknown Code 'C50.9' in the CodeSystem 'http://terminology.hl7.org/CodeSystem/icd-o-3' version '2000' - note that the code system is labeled as a fragment, so the code may be valid in some other fragment","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-code"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODE_IN_FRAGMENT"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#C50.9 (\"Breast, NOS\")]\"\n0ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#C50.9\"\n0ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3|2000\n0ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3) at Coding\n0ms http://terminology.hl7.org/CodeSystem/icd-o-3/vs|2000: Code \"C50.9\" not found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000: undefined"}]}

#182

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://terminology.hl7.org/CodeSystem/icd-o-3","code":"C50.9"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69"},{"name":"valueSetVersion","valueString":"1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:13 GMT
etag:W/"af9-jP8dIp40ocrc4Py3e15wMCV/RFA"
server:nginx
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://terminology.hl7.org/CodeSystem/icd-o-3"},{"name":"code","valueCode":"C50.9"},{"name":"message","valueString":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#C50.9' was not found in the value set 'urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"code-invalid","details":{"text":"Unknown Code 'C50.9' in the CodeSystem 'http://terminology.hl7.org/CodeSystem/icd-o-3' version '2000' - note that the code system is labeled as a fragment, so the code may be valid in some other fragment","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-code"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODE_IN_FRAGMENT"}]},{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://terminology.hl7.org/CodeSystem/icd-o-3#C50.9' was not found in the value set 'urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Analysing urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1 for validation purposes\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Prepare include[0]: \"(http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofT)\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: CodeSystem found: \"http://terminology.hl7.org/CodeSystem/icd-o-3|2000\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Validate \"[http://terminology.hl7.org/CodeSystem/icd-o-3#C50.9 (\"undefined\")]\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Check \"http://terminology.hl7.org/CodeSystem/icd-o-3#C50.9\"\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: CodeSystem found: http://terminology.hl7.org/CodeSystem/icd-o-3|2000 for http://terminology.hl7.org/CodeSystem/icd-o-3\n0ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: check code in (http://terminology.hl7.org/CodeSystem/icd-o-3)(conceptdescendent-ofT) at Coding\n1ms urn:uuid:6b08d5b8-6ba4-409b-8094-0c316fcc5e69|1: Filter concept descendent-of T: Code \"C50.9\" not found in http://terminology.hl7.org/CodeSystem/icd-o-3|2000"}]}

#183

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","version":"2025","code":"E11","display":"Diabetes mellitus Typ 2"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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x-powered-by:PleskLin
x-request-id:210eaaef-5391-44e2-8459-421efcb679cf
x-xss-protection:0

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"E11"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2025"},{"name":"display","valueString":"Diabetes mellitus, Typ 2"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-display"}],"text":"Wrong Display Name 'Diabetes mellitus Typ 2' for http://fhir.de/CodeSystem/bfarm/icd-10-gm#E11. There are no valid display names found for language(s) 'en-US'. Default display is 'Diabetes mellitus, Typ 2'"},"location":["Coding.display"],"expression":["Coding.display"]}]}},{"name":"message","valueString":"Wrong Display Name 'Diabetes mellitus Typ 2' for http://fhir.de/CodeSystem/bfarm/icd-10-gm#E11. There are no valid display names found for language(s) 'en-US'. Default display is 'Diabetes mellitus, Typ 2'"}]}

#184

POST https://tx.fhir.de/fhir/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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#185

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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200
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#186

POST https://tx.fhir.de/fhir/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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#187

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","version":"2025","code":"I10","display":"Essentielle (primäre) Hypertonie"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"code","valueCode":"I10"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2025"},{"name":"display","valueString":"Essentielle (primäre) Hypertonie"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"display-comment"}],"text":"'Essentielle (primäre) Hypertonie' is the default display; the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm has no Display Names for the language en-US"},"location":["Coding.display"],"expression":["Coding.display"]}]}}]}

#188

POST https://tx.fhir.de/fhir/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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200
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#189

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"761869008"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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#190

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:959
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:13 GMT
etag:W/"3bf-tvnaVQnbH3nUSJX3QslPjleaGgE"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-112732

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"101658-3"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Cancer staging after multimodality therapy"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#101658-3 (\"Cancer staging after multimodality therapy\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#101658-3\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at CodeableConcept.coding[0]\n2ms http://loinc.org/vs|2.82: Code \"101658-3\" found in http://loinc.org|2.82"}]}

#191

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:14 GMT
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server:nginx
transfer-encoding:chunked
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x-request-id:tx-112733

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"421755005"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"y"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#421755005\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"421755005\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#192

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"bec-Qn2KvLKS0f4asGEl8+SgBZk+77U"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112734

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(L0,L1,LX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-l-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#193

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"bf0-wFRYwceWRioseyATXG+HOoIltm4"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112735

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101658-3 ('Cancer staging after multimodality therapy')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277208005,399387003,371497001)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Validate \"[http://loinc.org#101658-3 (\"Cancer staging after multimodality therapy\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Check \"http://loinc.org#101658-3\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#194

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"bfc-GtHiW+V68ZzRbV11lpwFNV/M1Do"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112736

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(M0,M1,M1a,M1b,M1c,M1d,MX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#195

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"b95-m7n8ONK9n/rjYKm4y6P4tYYnN0Q"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112737

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(m,2,3,4,5,6,7,8,9,10)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-m-symbol|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#196

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

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200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"bf0-08lfYC6KZJR+9/xkAbdwI6PqUHk"
server:nginx
transfer-encoding:chunked
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x-powered-by:Express
x-request-id:tx-112738

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101658-3 ('Cancer staging after multimodality therapy')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(277206009,399534004,371494008)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Validate \"[http://loinc.org#101658-3 (\"Cancer staging after multimodality therapy\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Check \"http://loinc.org#101658-3\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#197

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
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transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112740

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(NX,N0,N1,N1mi,N1a,N1b,N1c,N2,N2a,N2b,N2c,N3,N3a,N3b,N3c)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-n-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#198

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

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200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"bef-unYRKZd9/F7NK8mPF8EDCsqODp0"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112741

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101658-3 ('Cancer staging after multimodality therapy')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(78873005,399504009,384625004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Validate \"[http://loinc.org#101658-3 (\"Cancer staging after multimodality therapy\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Check \"http://loinc.org#101658-3\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#199

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

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200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:14 GMT
etag:W/"caf-smCroGsOduSf+G+IZTy7lXm8awM"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112742

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(TX,T0,Ta,Tis,Tis(LAMN),Tis(DCIS),Tis(LCIS),Tis(Paget),Tis(pu),Tis(pd),T1,T1mi,T1a,T1a1,T1a2,T1b,T1b1,T1b2,T1c,T1c1,T1c2,T1c3,T1d,T2,T2a,T2a1,T2a2,T2b,T2c,T2d,T3,T3a,T3b,T3c,T3d,T3e,T4,T4a,T4b,T4c,T4d,T4e)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-t-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#200

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:15 GMT
etag:W/"bfa-44zW28i8kpFl1IdrhBFh6EXT94o"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112743

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(Pn0,Pn1,PnX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-pn-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#201

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:15 GMT
etag:W/"bf2-LQ+mgah4sd3kp0aKcZWW+tzu3tw"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112744

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(S0,S1,S2,S3,SX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-s-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#202

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:15 GMT
etag:W/"bef-lHMWGLNhe1WY8vIqoyiPuT5S78g"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112746

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(V0,V1,V2,VX)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-v-kategorie-werte|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#203

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:15 GMT
etag:W/"c93-7rNn8JJRrxqDZX+cNiUSGbTVGA0"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112751

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Prepare include[0]: \"(https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention)(K,P,D,R,S,X)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: CodeSystem found: \"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Include for https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention not considered for \"http://snomed.info/sct\""}]}

#204

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:15 GMT
etag:W/"c93-EjNV7JQjRyeN1hE/ENaXHjRFJUI"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112753

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Prepare include[0]: \"(https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention)(K,P,D,R,S,X)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: CodeSystem found: \"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-operation-intention|2026.0.1: Include for https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-intention not considered for \"http://snomed.info/sct\""}]}

#205

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"277132007","display":"Therapeutic procedure"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:15 GMT
etag:W/"5b9-0pbxYPvAlnVBsK/clZYmNVz0fAQ"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"code","valueCode":"277132007"},{"name":"version","valueString":"http://snomed.info/sct/900000000000207008/version/20250201"},{"name":"display","valueString":"Therapeutic procedure"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"277132007","display":"Therapeutic procedure"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#277132007 (\"Therapeutic procedure\")]\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Check \"http://snomed.info/sct#277132007\"\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: check code in (http://snomed.info/sct) at CodeableConcept.coding[0]\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Code \"277132007\" found in http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201"}]}

#206

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2025","code":"8-52","display":"Nicht komplexe Chemotherapie"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"8-52"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/ops"},{"name":"version","valueString":"2025"},{"name":"display","valueString":"Strahlentherapie"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-display"}],"text":"Wrong Display Name 'Nicht komplexe Chemotherapie' for http://fhir.de/CodeSystem/bfarm/ops#8-52. There are no valid display names found for language(s) 'en-US'. Default display is 'Strahlentherapie'"},"location":["Coding.display"],"expression":["Coding.display"]}]}},{"name":"message","valueString":"Wrong Display Name 'Nicht komplexe Chemotherapie' for http://fhir.de/CodeSystem/bfarm/ops#8-52. There are no valid display names found for language(s) 'en-US'. Default display is 'Strahlentherapie'"}]}

#207

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"277132007","display":"Therapeutic procedure"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct"},{"name":"valueSetVersion","valueString":"2026.0.0"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://snomed.info/sct"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250701"},{"name":"code","valueCode":"277132007"},{"name":"message","valueString":"A definition for CodeSystem 'http://snomed.info/sct' version 'http://snomed.info/sct/900000000000207008/version/20250701' could not be found, so the code cannot be validated. Valid versions: http://snomed.info/sct/11000146104/version/20240930, http://snomed.info/sct/2011000195101/version/20230607, http://snomed.info/sct/554471000005108/version/20260331, http://snomed.info/sct/731000124108/version/20230301, http://snomed.info/sct/731000124108/version/20240301, http://snomed.info/sct/731000124108/version/20250901, http://snomed.info/sct/827022005/version/20241216, http://snomed.info/sct/83821000000107/version/20230412, http://snomed.info/sct/900000000000207008/version/20240201, http://snomed.info/sct/900000000000207008/version/20250201 and http://snomed.info/xsct/31000003106/version/20250909"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://snomed.info/sct' version 'http://snomed.info/sct/900000000000207008/version/20250701' could not be found, so the code cannot be validated. Valid versions: http://snomed.info/sct/11000146104/version/20240930, http://snomed.info/sct/2011000195101/version/20230607, http://snomed.info/sct/554471000005108/version/20260331, http://snomed.info/sct/731000124108/version/20230301, http://snomed.info/sct/731000124108/version/20240301, http://snomed.info/sct/731000124108/version/20250901, http://snomed.info/sct/827022005/version/20241216, http://snomed.info/sct/83821000000107/version/20230412, http://snomed.info/sct/900000000000207008/version/20240201, http://snomed.info/sct/900000000000207008/version/20250201 and http://snomed.info/xsct/31000003106/version/20250909","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM_VERSION"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: Analysing https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: Prepare include[0]: \"(http://snomed.info/sct)(165197003,363679005,387713003,18629005,277132007,394841004)\"\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: CodeSystem version http://snomed.info/sct/900000000000207008/version/20250701 not found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250701\"\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: Validate \"[http://snomed.info/sct#277132007 (\"Therapeutic procedure\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: Check \"http://snomed.info/sct#277132007\"\n0ms https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/procedures-category-sct|2026.0.0: CodeSystem not found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250701"}]}

#208

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2025","code":"8-52","display":"Nicht komplexe Chemotherapie"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-onko-systemische-therapie-art","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art","version":"2026.0.1","name":"MII_VS_Onko_Systemische_Therapie_Art","title":"MII VS Onkologie Systemische Therapie Art","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"oBDS-spezifisches ValueSet für Klassifikation der Art der systemischen oder abwartenden Therapie","compose":{"include":[{"system":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-therapie-typ","concept":[{"code":"CH","display":"Chemotherapie"},{"code":"HO","display":"Hormontherapie"},{"code":"IM","display":"Immun-/Antikörpertherapie"},{"code":"ZS","display":"zielgerichtete Substanzen"},{"code":"SZ","display":"Stammzelltransplantation (inklusive Knochenmarktransplantation)"},{"code":"CI","display":"Chemo- + Immun-/Antikörpertherapie"},{"code":"CZ","display":"Chemotherapie + zielgerichtete Substanzen"},{"code":"CIZ","display":"Chemo- + Immun-/Antikörpertherapie + zielgerichtete Substanzen"},{"code":"IZ","display":"Immun-/Antikörpertherapie + zielgerichtete Substanzen"},{"code":"WW","display":"Watchful Waiting"},{"code":"AS","display":"Active Surveillance"},{"code":"WS","display":"Wait and see"},{"code":"SO","display":"Sonstiges"}]}]}}},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"mii-cs-onko-therapie-typ","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"]},"url":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-therapie-typ","version":"2026.0.1","name":"MII_CS_Onko_Therapie_Typ","title":"MII CS Onko Therapie Typ","status":"active","experimental":false,"publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Typ der Therapie","caseSensitive":true,"content":"complete","count":16,"concept":[{"code":"CH","display":"Chemotherapie"},{"code":"HO","display":"Hormontherapie"},{"code":"IM","display":"Immun-/Antikörpertherapie"},{"code":"ZS","display":"zielgerichtete Substanzen"},{"code":"SZ","display":"Stammzelltransplantation (inklusive Knochenmarktransplantation)"},{"code":"CI","display":"Chemo- + Immun-/Antikörpertherapie"},{"code":"CZ","display":"Chemotherapie + zielgerichtete Substanzen"},{"code":"CIZ","display":"Chemo- + Immun-/Antikörpertherapie + zielgerichtete Substanzen"},{"code":"IZ","display":"Immun-/Antikörpertherapie + zielgerichtete Substanzen"},{"code":"WW","display":"Watchful Waiting"},{"code":"AS","display":"Active Surveillance"},{"code":"WS","display":"Wait and see"},{"code":"OP","display":"Operation"},{"code":"ST","display":"Strahlentherapie"},{"code":"KW","display":"keine weitere tumorspezifische Therapie empfohlen"},{"code":"SO","display":"Sonstiges"}]}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/ops"},{"name":"x-unknown-system","valueCanonical":"http://fhir.de/CodeSystem/bfarm/ops"},{"name":"code","valueCode":"8-52"},{"name":"version","valueString":"2025"},{"name":"message","valueString":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/ops' version '2025' could not be found, so the code cannot be validated. No versions of this code system are known; The provided code 'http://fhir.de/CodeSystem/bfarm/ops|2025#8-52 ('Nicht komplexe Chemotherapie')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1'"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/ops' version '2025' could not be found, so the code cannot be validated. No versions of this code system are known","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM_VERSION_NONE"}]},{"severity":"error","code":"code-invalid","details":{"text":"The provided code 'http://fhir.de/CodeSystem/bfarm/ops|2025#8-52 ('Nicht komplexe Chemotherapie')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"expression":["Coding.code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: Prepare include[0]: \"(https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-therapie-typ)(CH,HO,IM,ZS,SZ,CI,CZ,CIZ,IZ,WW,AS,WS,SO)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: CodeSystem found: \"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-therapie-typ|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: Validate \"[http://fhir.de/CodeSystem/bfarm/ops|2025#8-52 (\"Nicht komplexe Chemotherapie\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: Check \"http://fhir.de/CodeSystem/bfarm/ops|2025#8-52\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-systemische-therapie-art|2026.0.1: Include for https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-therapie-typ not considered for \"http://fhir.de/CodeSystem/bfarm/ops|2025\""}]}

#209

POST https://tx.fhir.de/fhir/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2025","code":"8-52","display":"Nicht komplexe Chemotherapie"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mii-vs-prozedur-ops","meta":{"profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"https://www.medizininformatik-initiative.de/fhir/modul-meta/StructureDefinition/mii-ex-meta-license-codeable","valueCodeableConcept":{"coding":[{"system":"http://hl7.org/fhir/spdx-license","code":"CC-BY-4.0","display":"Creative Commons Attribution 4.0 International"}]}}],"url":"https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/mii-vs-prozedur-ops","version":"2026.0.0","name":"MII_VS_Prozedur_OPS","title":"MII VS Prozedur OPS","status":"active","experimental":false,"date":"2025-03-17","publisher":"Medizininformatik Initiative","contact":[{"telecom":[{"system":"url","value":"https://www.medizininformatik-initiative.de"}]}],"description":"Enthaelt OPS-Codes der Versionen 2010 bis 2025","copyright":"WHO, BfArM 1994 - 2025 - Die Erstellung erfolgt unter Verwendung der maschinenlesbaren Fassung des Bundesinstituts für Arzneimittel und Medizinprodukte (BfArM).","compose":{"include":[{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2025"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2024"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2023"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2022"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2021"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2020"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2019"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2018"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2017"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2016"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2015"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2014"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2013"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2012"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2011"},{"system":"http://fhir.de/CodeSystem/bfarm/ops","version":"2010"}]}}},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"8-52"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/ops"},{"name":"version","valueString":"2025"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"vs-invalid"}],"text":"Unable to check whether the code is in the value set 'https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/mii-vs-prozedur-ops|2026.0.0' because the code system http://fhir.de/CodeSystem/bfarm/ops|2025 was not found"}},{"severity":"error","code":"not-found","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}],"text":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/ops' version '2025' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]"},"location":["Coding.system"],"expression":["Coding.system"]}]}},{"name":"x-caused-by-unknown-system","valueCanonical":"http://fhir.de/CodeSystem/bfarm/ops|2024"},{"name":"message","valueString":"A definition for CodeSystem 'http://fhir.de/CodeSystem/bfarm/ops' version '2025' could not be found, so the code cannot be validated. Valid versions: [2025, 2026]; Unable to check whether the code is in the value set 'https://www.medizininformatik-initiative.de/fhir/core/modul-prozedur/ValueSet/mii-vs-prozedur-ops|2026.0.0' because the code system http://fhir.de/CodeSystem/bfarm/ops|2025 was not found"}]}

#210

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://www.whocc.no/atc","code":"L01","display":"Antineoplastic agents"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://www.whocc.no/atc"},{"name":"code","valueCode":"L01"},{"name":"version","valueString":"2025"},{"name":"display","valueString":"ANTINEOPLASTIC AGENTS"},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://www.whocc.no/atc/vs|2025: Validate \"[http://www.whocc.no/atc#L01 (\"Antineoplastic agents\")]\"\n0ms http://www.whocc.no/atc/vs|2025: Check \"http://www.whocc.no/atc#L01\"\n0ms http://www.whocc.no/atc/vs|2025: CodeSystem found: http://www.whocc.no/atc|2025 for http://www.whocc.no/atc|2025\n1ms http://www.whocc.no/atc/vs|2025: check code in (http://www.whocc.no/atc) at Coding\n1ms http://www.whocc.no/atc/vs|2025: Code \"L01\" found in http://www.whocc.no/atc|2025"}]}

#211

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2ficd-10-gm HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:16 GMT
etag:W/"1787250035550"
last-modified:Tue, 06 Oct 2026 13:27:16 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
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x-request-id:be9a6752-21c6-4c94-aba0-bfb00234d8f8
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{"resourceType":"Bundle","id":"86c60855-c81f-3fdf-9a28-9eec8fc9836e","meta":{"lastUpdated":"2026-10-06T13:27:16.879+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":2,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Ficd-10-gm"}],"entry":[{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/icd10gm-2025","resource":{"resourceType":"CodeSystem","id":"icd10gm-2025","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:00:12.364+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","identifier":[{"use":"official","system":"urn:ietf:rfc:3986","value":"urn:oid:1.2.276.0.76.5.548"},{"use":"old","system":"urn:ietf:rfc:3986","value":"http://fhir.de/CodeSystem/dimdi/icd-10-gm"},{"use":"official","system":"urn:ietf:rfc:3986","value":"https://terminologien.bfarm.de/fhir/CodeSystem/icd10gm"}],"version":"2025","name":"ICD10GM","title":"Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme","status":"active","experimental":false,"date":"2024-09-13","publisher":"BfArM","contact":[{"telecom":[{"system":"email","value":"klassi@bfarm.de"},{"system":"url","value":"https://www.bfarm.de"}]}],"caseSensitive":true,"valueSet":"http://fhir.de/ValueSet/bfarm/icd-10-gm|2025","hierarchyMeaning":"classified-with","compositional":true,"versionNeeded":true,"content":"complete","count":17089,"property":[{"code":"SexCode","description":"Geschlechtsbezug der Schlüsselnummer","type":"Coding"},{"code":"Infectious","description":"IfSG-Meldung kennzeichnet, dass bei Diagnosen, die mit dieser Schlüsselnummer kodiert sind, besonders auf die Arzt-Meldepflicht nach dem Infektionsschutzgesetz (IfSG) hinzuweisen ist","type":"Coding"},{"code":"Exotic","description":"Krankheit in Mitteleuropa sehr selten?","type":"Coding"},{"code":"parent","uri":"http://hl7.org/fhir/concept-properties#parent","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein übergeordnetes Konzept (Elternkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'parent' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"AgeHigh","description":"obere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten bis zu einem Alter von höchstens m vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"AgeLow","description":"untere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten ab einem Alter von mindestens n vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"AgeReject","description":"Art des Fehlers bei Altersbezug","type":"Coding"},{"code":"classKind","description":"Art der Klasse","type":"string"},{"code":"SexReject","description":"Art des Fehlers bei Geschlechtsbezug","type":"Coding"},{"code":"child","uri":"http://hl7.org/fhir/concept-properties#child","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein untergeordnetes Konzept (Kindkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'child' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"Content","description":"Schlüsselnummer mit Inhalt belegt?","type":"Coding"},{"code":"EBMLabor","description":"IfSG-Labor kennzeichnet, dass bei Laboruntersuchungen zu diesen Diagnosen die Laborausschlussziffer des EBM (32006) gewählt werden kann","type":"Coding"},{"code":"usage","description":"Art der Verwendung des Kodes","type":"string"},{"code":"Para295","description":"Verwendung der Schlüsselnummer nach Paragraph 295","type":"Coding"},{"code":"Para301","description":"Verwendung der Schlüsselnummer nach Paragraph 301","type":"Coding"}]}},{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/icd10gm-2026","resource":{"resourceType":"CodeSystem","id":"icd10gm-2026","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:00:23.767+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","identifier":[{"use":"official","system":"urn:ietf:rfc:3986","value":"https://terminologien.bfarm.de/fhir/CodeSystem/icd10gm"},{"use":"official","system":"urn:ietf:rfc:3986","value":"urn:oid:1.2.276.0.76.5.554"},{"use":"old","system":"urn:ietf:rfc:3986","value":"http://fhir.de/CodeSystem/dimdi/icd-10-gm"}],"version":"2026","name":"ICD10GM","title":"Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme","status":"active","experimental":false,"date":"2025-09-12","publisher":"BfARM","contact":[{"telecom":[{"system":"email","value":"klassi@bfarm.de"},{"system":"url","value":"https://www.bfarm.de"}]}],"caseSensitive":true,"valueSet":"http://fhir.de/ValueSet/bfarm/icd-10-gm|2026","hierarchyMeaning":"classified-with","compositional":true,"versionNeeded":true,"content":"complete","count":17177,"property":[{"code":"Content","description":"Schlüsselnummer mit Inhalt belegt?","type":"Coding"},{"code":"Para301","description":"Verwendung der Schlüsselnummer nach Paragraph 301","type":"Coding"},{"code":"SexCode","description":"Geschlechtsbezug der Schlüsselnummer","type":"Coding"},{"code":"classKind","description":"Art der Klasse","type":"string"},{"code":"Para295","description":"Verwendung der Schlüsselnummer nach Paragraph 295","type":"Coding"},{"code":"child","uri":"http://hl7.org/fhir/concept-properties#child","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein untergeordnetes Konzept (Kindkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'child' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"AgeHigh","description":"obere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten bis zu einem Alter von höchstens m vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"EBMLabor","description":"IfSG-Labor kennzeichnet, dass bei Laboruntersuchungen zu diesen Diagnosen die Laborausschlussziffer des EBM (32006) gewählt werden kann","type":"Coding"},{"code":"AgeReject","description":"Art des Fehlers bei Altersbezug","type":"Coding"},{"code":"Infectious","description":"IfSG-Meldung kennzeichnet, dass bei Diagnosen, die mit dieser Schlüsselnummer kodiert sind, besonders auf die Arzt-Meldepflicht nach dem Infektionsschutzgesetz (IfSG) hinzuweisen ist","type":"Coding"},{"code":"usage","description":"Art der Verwendung des Kodes","type":"string"},{"code":"SexReject","description":"Art des Fehlers bei Geschlechtsbezug","type":"Coding"},{"code":"AgeLow","description":"untere Altersgrenze für eine Schlüsselnummer (Eine Krankheit kann auftreten ab einem Alter von mindestens n vollendeten Lebenstagen/-jahren.)","type":"Coding"},{"code":"parent","uri":"http://hl7.org/fhir/concept-properties#parent","description":"Die Eigenschaft beschreibt, dass es sich bei diesem Konzept um ein übergeordnetes Konzept (Elternkonzept) handelt. Der Eigenschaftstyp ist 'code'. Die Bedeutung von 'parent' wird durch das Attribut 'hierarchyMeaning' definiert.","type":"code"},{"code":"Exotic","description":"Krankheit in Mitteleuropa sehr selten?","type":"Coding"}]}}]}

#212

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"C50","display":"Bösartige Neubildung der Brust"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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x-request-id:ea3e5aa8-1d60-4d42-80b8-9e1b82049812
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{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"code","valueCode":"C50"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2026"},{"name":"display","valueString":"Bösartige Neubildung der Brustdrüse [Mamma]"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-display"}],"text":"Wrong Display Name 'Bösartige Neubildung der Brust' for http://fhir.de/CodeSystem/bfarm/icd-10-gm#C50. There are no valid display names found for language(s) 'en-US'. Default display is 'Bösartige Neubildung der Brustdrüse [Mamma]'"},"location":["Coding.display"],"expression":["Coding.display"]}]}},{"name":"message","valueString":"Wrong Display Name 'Bösartige Neubildung der Brust' for http://fhir.de/CodeSystem/bfarm/icd-10-gm#C50. There are no valid display names found for language(s) 'en-US'. Default display is 'Bösartige Neubildung der Brustdrüse [Mamma]'"}]}

#213

POST https://tx.fhir.de/fhir/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"C18","display":"Bösartige Neubildung des Kolons"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:16 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:85bc7cbc-1bd8-4a92-a8d6-698c717d188e
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:85bc7cbc-1bd8-4a92-a8d6-698c717d188e
x-xss-protection:0

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"code","valueCode":"C18"},{"name":"system","valueUri":"http://fhir.de/CodeSystem/bfarm/icd-10-gm"},{"name":"version","valueString":"2026"},{"name":"display","valueString":"Bösartige Neubildung des Kolons"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"invalid","details":{"coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"display-comment"}],"text":"'Bösartige Neubildung des Kolons' is the default display; the code system http://fhir.de/CodeSystem/bfarm/icd-10-gm has no Display Names for the language en-US"},"location":["Coding.display"],"expression":["Coding.display"]}]}}]}

#214

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"761869008"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"d1a-Vw8NreW93VW/LbDKERLKF/gsBuE"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112771

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"761869008","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#761869008' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://snomed.info/sct#761869008 (\"undefined\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://snomed.info/sct#761869008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201 for http://snomed.info/sct\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: check code in (http://snomed.info/sct)(399390009,399537006,399588009) at CodeableConcept.coding[0]"}]}

#215

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"c3d-C2ZSaiCRrSxhYj+9U4IN9QEJQ90"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112780

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101658-3","display":"Cancer staging after multimodality therapy","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101658-3 ('Cancer staging after multimodality therapy')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://loinc.org#101658-3 (\"Cancer staging after multimodality therapy\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://loinc.org#101658-3\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#216

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"c2b-CwXOra65NlGWLcs4zK2k/2swE1M"
server:nginx
transfer-encoding:chunked
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x-powered-by:Express
x-request-id:tx-112800

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421755005 ('y')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(okk,0,0a,0is,I,IA1,IA2,IA3,IB,IB1,IB2,IC,IS,II,IIA,IIA1,IIA2,IIB,IIC,III,IIIA,IIIA1,IIIA2,IIIB,IIIC,IIIC1,IIIC2,IV,IVA,IVB,IVC)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Validate \"[http://snomed.info/sct#421755005 (\"y\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Check \"http://snomed.info/sct#421755005\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#217

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"c2e-tx2/qWXVmim6YUj2MTPyvTQ7nVo"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112801

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"101659-1","display":"Cancer staging after tumor recurrence","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#101659-1 ('Cancer staging after tumor recurrence')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://loinc.org#101659-1 (\"Cancer staging after tumor recurrence\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://loinc.org#101659-1\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#218

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"c2b-EYEIS10kX0Wzxgq4mmL9wq1n2kU"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112802

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r","version":"http://snomed.info/sct/900000000000207008/version/20250201"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://snomed.info/sct#421188008 ('r')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Prepare include[0]: \"(https://www.uicc.org/resources/tnm)(okk,0,0a,0is,I,IA1,IA2,IA3,IB,IB1,IB2,IC,IS,II,IIA,IIA1,IIA2,IIB,IIC,III,IIIA,IIIA1,IIIA2,IIIB,IIIC,IIIC1,IIIC2,IV,IVA,IVB,IVC)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: CodeSystem found: \"https://www.uicc.org/resources/tnm|2026.0.1\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Validate \"[http://snomed.info/sct#421188008 (\"r\")]\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Check \"http://snomed.info/sct#421188008\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-uicc-stadium|2026.0.1: Include for https://www.uicc.org/resources/tnm not considered for \"http://snomed.info/sct\""}]}

#219

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"c4e-SQL9tFbCw20AP+QQgxOnwxDFSqs"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112803

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"42030-7","display":"Multiple tumors reported as single primary Cancer","version":"2.82"}]}},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"information","code":"code-invalid","details":{"text":"The provided code 'http://loinc.org#42030-7 ('Multiple tumors reported as single primary Cancer')' was not found in the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"this-code-not-in-vs"}]},"expression":["CodeableConcept.coding[0].code"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"None_of_the_provided_codes_are_in_the_value_set_one"}]},{"severity":"error","code":"code-invalid","details":{"text":"No valid coding was found for the value set 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1'","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-in-vs"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"TX_GENERAL_CC_ERROR_MESSAGE"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Analysing https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1 for validation purposes\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Prepare include[0]: \"(http://snomed.info/sct)(399390009,399537006,399588009)\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: CodeSystem found: \"http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20250201\"\n0ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Validate \"[http://loinc.org#42030-7 (\"Multiple tumors reported as single primary Cancer\")]\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Check \"http://loinc.org#42030-7\"\n1ms https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ|2026.0.1: Include for http://snomed.info/sct not considered for \"http://loinc.org\""}]}

#220

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"399504009","display":"cT category (observable entity)"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-tnm-klassifikation-typ"},{"name":"valueSetVersion","valueString":"2026.0.1"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:17 GMT
etag:W/"d80-pZqI/0ZGDuGxm9q2N8knDBNy6nk"
server:nginx
transfer-encoding:chunked
vary:Origin
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x-request-id:tx-112804

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#221

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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200
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#222

POST https://tx.fhir.de/fhir/ValueSet/$validate-code? HTTP/1.1
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200
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#223

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421755005","display":"y"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips"},{"name":"valueSetVersion","valueString":"1.1.0"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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#224

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://snomed.info/sct","code":"421188008","display":"r"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://gematik.de/fhir/isik/ValueSet/current-smoking-status-uv-ips"},{"name":"valueSetVersion","valueString":"1.1.0"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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#225

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
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transfer-encoding:chunked
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x-powered-by:Express
x-request-id:tx-112835

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#226

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:18 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112838

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#227

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:19 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112867

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#228

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:19 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112870

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#229

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"85231-9","display":"Tumor board Note"}]}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:19 GMT
etag:W/"77a-ht1KEajA6l9cX/cPSbroSxEoaqw"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112881

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"85231-9"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Tumor board Note"},{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"85231-9","display":"Tumor board Note"}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: Analysing https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3 for validation purposes\n0ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: Prepare include[0]: \"(http://loinc.org)(55229-9,51969-4,11526-1,85231-9)\"\n1ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: CodeSystem found: \"http://loinc.org|2.82\"\n1ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: Validate \"[http://loinc.org#85231-9 (\"Tumor board Note\")]\"\n1ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: Check \"http://loinc.org#85231-9\"\n2ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: CodeSystem found: http://loinc.org|2.82 for http://loinc.org\n2ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: check code in (http://loinc.org)(55229-9,51969-4,11526-1,85231-9) at CodeableConcept.coding[0]\n2ms https://tumorboards-ig.app.ccc-onconnect.de/ValueSet/onconnect-vs-tb-document-type|0.5.3: Code \"85231-9\" found in http://loinc.org|2.82"}]}

#230

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:19 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112902

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#231

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:20 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112904

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#232

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:20 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
vary:Origin
x-powered-by:Express
x-request-id:tx-112913

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#233

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:20 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112933

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#234

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"displayLanguage","valueCode":"en-US"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
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content-type:application/fhir+json; charset=utf-8
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transfer-encoding:chunked
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x-request-id:tx-112939

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#235

POST https://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://oncotree.info/api/tumorTypes","code":"BRCA","display":"Invasive Breast Carcinoma"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://oncotree.info/api/tumorTypes/ValueSet"},{"name":"valueSetVersion","valueString":"0.5.3"},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
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date:Tue, 06 Oct 2026 13:27:21 GMT
etag:W/"753-OGO3vJFvfqCqvn5N/gtOSCDdLg8"
server:nginx
transfer-encoding:chunked
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x-request-id:tx-112941

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"system","valueUri":"http://oncotree.info/api/tumorTypes"},{"name":"x-caused-by-unknown-system","valueCanonical":"http://oncotree.info/api/tumorTypes"},{"name":"code","valueCode":"BRCA"},{"name":"message","valueString":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://oncotree.info/api/tumorTypes' could not be found, so the code cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"expression":["Coding.system"],"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM"}]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Analysing http://oncotree.info/api/tumorTypes/ValueSet|0.5.3 for validation purposes\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Parameters: disp-lang=en-US, generate-narrative, default-to-latest\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Prepare include[0]: \"(http://oncotree.info/api/tumorTypes)\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem version undefined not found: \"http://oncotree.info/api/tumorTypes\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Validate \"[http://oncotree.info/api/tumorTypes#BRCA (\"Invasive Breast Carcinoma\")]\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: Check \"http://oncotree.info/api/tumorTypes#BRCA\"\n0ms http://oncotree.info/api/tumorTypes/ValueSet|0.5.3: CodeSystem not found: http://oncotree.info/api/tumorTypes"}]}

#236

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"72166-2"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:717
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:26 GMT
etag:W/"2cd-4LyqmTTnzqW46Xwf3yHVVJqIAOA"
server:nginx
vary:Origin
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x-request-id:tx-113133

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"72166-2"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Tobacco smoking status"},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#72166-2 (\"undefined\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#72166-2\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at Coding\n2ms http://loinc.org/vs|2.82: Code \"72166-2\" found in http://loinc.org|2.82"}]}

#237

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"8664-5"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:741
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:26 GMT
etag:W/"2e5-MyOxG8o6QWgxiEwOkuOc09BgWds"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-113135

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"8664-5"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Cigarettes smoked total (pack per year) - Reported"},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#8664-5 (\"undefined\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#8664-5\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at Coding\n2ms http://loinc.org/vs|2.82: Code \"8664-5\" found in http://loinc.org|2.82"}]}

#238

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"104803-2"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:744
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:26 GMT
etag:W/"2e8-UtVB/rASCYnJDmg5+szoDqfUewc"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-113138

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":true},{"name":"system","valueUri":"http://loinc.org"},{"name":"code","valueCode":"104803-2"},{"name":"version","valueString":"2.82"},{"name":"display","valueString":"Therapeutic intent [Interpretation] Narrative"},{"name":"diagnostics","valueString":"0ms tx-op\n1ms http://loinc.org/vs|2.82: Validate \"[http://loinc.org#104803-2 (\"undefined\")]\"\n1ms http://loinc.org/vs|2.82: Check \"http://loinc.org#104803-2\"\n2ms http://loinc.org/vs|2.82: CodeSystem found: http://loinc.org|2.82 for http://loinc.org|2.82\n2ms http://loinc.org/vs|2.82: check code in (http://loinc.org) at Coding\n2ms http://loinc.org/vs|2.82: Code \"104803-2\" found in http://loinc.org|2.82"}]}

#239

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://snomed.info/sct","filter":[{"property":"concept","op":"is-a","value":"404684003"}]}]}}}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:34 GMT
etag:W/"16f47-qt21SzCbDqdiGN1Y4TmW2HH2Vlo"
server:nginx
transfer-encoding:chunked
vary:Origin
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x-request-id:tx-113192

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#240

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#241

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422
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#242

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400
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#243

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200
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belegte Schlüsselnummer U13.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.2","display":"Nicht belegte Schlüsselnummer U13.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.3","display":"Nicht belegte Schlüsselnummer U13.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.4","display":"Nicht belegte Schlüsselnummer U13.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.5","display":"Nicht belegte Schlüsselnummer U13.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.6","display":"Nicht belegte Schlüsselnummer U13.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.7","display":"Nicht belegte Schlüsselnummer U13.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.8","display":"Nicht belegte Schlüsselnummer U13.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13.9","display":"Nicht belegte Schlüsselnummer U13.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.0","display":"Nicht belegte Schlüsselnummer U14.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.1","display":"Nicht belegte Schlüsselnummer U14.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.2","display":"Nicht belegte Schlüsselnummer U14.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.3","display":"Nicht belegte Schlüsselnummer U14.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.4","display":"Nicht belegte Schlüsselnummer U14.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.5","display":"Nicht belegte Schlüsselnummer U14.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.6","display":"Nicht belegte Schlüsselnummer U14.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.7","display":"Nicht belegte Schlüsselnummer U14.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.8","display":"Nicht belegte Schlüsselnummer U14.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14.9","display":"Nicht belegte Schlüsselnummer U14.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.0","display":"Nicht belegte Schlüsselnummer U15.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.1","display":"Nicht belegte Schlüsselnummer U15.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.2","display":"Nicht belegte Schlüsselnummer U15.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.3","display":"Nicht belegte Schlüsselnummer U15.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.4","display":"Nicht belegte Schlüsselnummer U15.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.5","display":"Nicht belegte Schlüsselnummer U15.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.6","display":"Nicht belegte Schlüsselnummer U15.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.7","display":"Nicht belegte Schlüsselnummer U15.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.8","display":"Nicht belegte Schlüsselnummer U15.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15.9","display":"Nicht belegte Schlüsselnummer U15.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.0","display":"Nicht belegte Schlüsselnummer U16.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.1","display":"Nicht belegte Schlüsselnummer U16.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.2","display":"Nicht belegte Schlüsselnummer U16.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.3","display":"Nicht belegte Schlüsselnummer U16.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.4","display":"Nicht belegte Schlüsselnummer U16.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.5","display":"Nicht belegte Schlüsselnummer U16.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.6","display":"Nicht belegte Schlüsselnummer U16.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.7","display":"Nicht belegte Schlüsselnummer U16.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.8","display":"Nicht belegte Schlüsselnummer U16.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16.9","display":"Nicht belegte Schlüsselnummer U16.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.0","display":"Nicht belegte Schlüsselnummer U17.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.1","display":"Nicht belegte Schlüsselnummer U17.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.2","display":"Nicht belegte Schlüsselnummer U17.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.3","display":"Nicht belegte Schlüsselnummer U17.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.4","display":"Nicht belegte Schlüsselnummer U17.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.5","display":"Nicht belegte Schlüsselnummer U17.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.6","display":"Nicht belegte Schlüsselnummer U17.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.7","display":"Nicht belegte Schlüsselnummer U17.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.8","display":"Nicht belegte Schlüsselnummer U17.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17.9","display":"Nicht belegte Schlüsselnummer U17.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.0","display":"Nicht belegte Schlüsselnummer U18.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.1","display":"Nicht belegte Schlüsselnummer U18.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.2","display":"Nicht belegte Schlüsselnummer U18.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.3","display":"Nicht belegte Schlüsselnummer U18.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.4","display":"Nicht belegte Schlüsselnummer U18.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.5","display":"Nicht belegte Schlüsselnummer U18.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.6","display":"Nicht belegte Schlüsselnummer U18.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.7","display":"Nicht belegte Schlüsselnummer U18.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.8","display":"Nicht belegte Schlüsselnummer U18.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18.9","display":"Nicht belegte Schlüsselnummer U18.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19.0","display":"Nicht belegte Schlüsselnummer U19.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19.1","display":"Nicht belegte Schlüsselnummer U19.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19.2","display":"Nicht belegte Schlüsselnummer U19.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19.3","display":"Nicht belegte Schlüsselnummer U19.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19.4","display":"Nicht belegte Schlüsselnummer U19.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19.5","display":"Nicht belegte Schlüsselnummer 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U20.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20.4","display":"Nicht belegte Schlüsselnummer U20.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20.5","display":"Nicht belegte Schlüsselnummer U20.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20.6","display":"Nicht belegte Schlüsselnummer U20.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20.7","display":"Nicht belegte Schlüsselnummer U20.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20.8","display":"Nicht belegte Schlüsselnummer U20.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20.9","display":"Nicht belegte Schlüsselnummer U20.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U21.0","display":"Nicht belegte Schlüsselnummer U21.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U21.1","display":"Nicht belegte Schlüsselnummer 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U33.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.2","display":"Nicht belegte Schlüsselnummer U33.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.3","display":"Nicht belegte Schlüsselnummer U33.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.4","display":"Nicht belegte Schlüsselnummer U33.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.5","display":"Nicht belegte Schlüsselnummer U33.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.6","display":"Nicht belegte Schlüsselnummer U33.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.7","display":"Nicht belegte Schlüsselnummer U33.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.8","display":"Nicht belegte Schlüsselnummer U33.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33.9","display":"Nicht belegte Schlüsselnummer U33.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.0","display":"Nicht belegte Schlüsselnummer U34.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.1","display":"Nicht belegte Schlüsselnummer U34.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.2","display":"Nicht belegte Schlüsselnummer U34.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.3","display":"Nicht belegte Schlüsselnummer U34.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.4","display":"Nicht belegte Schlüsselnummer U34.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.5","display":"Nicht belegte Schlüsselnummer U34.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.6","display":"Nicht belegte Schlüsselnummer U34.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34.7","display":"Nicht belegte Schlüsselnummer 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U37.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.0","display":"Nicht belegte Schlüsselnummer U38.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.1","display":"Nicht belegte Schlüsselnummer U38.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.2","display":"Nicht belegte Schlüsselnummer U38.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.3","display":"Nicht belegte Schlüsselnummer U38.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.4","display":"Nicht belegte Schlüsselnummer U38.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.5","display":"Nicht belegte Schlüsselnummer U38.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.6","display":"Nicht belegte Schlüsselnummer U38.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38.7","display":"Nicht belegte Schlüsselnummer 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U40.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40.4","display":"Nicht belegte Schlüsselnummer U40.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40.5","display":"Nicht belegte Schlüsselnummer U40.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40.6","display":"Nicht belegte Schlüsselnummer U40.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40.7","display":"Nicht belegte Schlüsselnummer U40.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40.8","display":"Nicht belegte Schlüsselnummer U40.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40.9","display":"Nicht belegte Schlüsselnummer U40.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U41.0","display":"Nicht belegte Schlüsselnummer U41.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U41.1","display":"Nicht belegte Schlüsselnummer 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U41.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.0","display":"Nicht belegte Schlüsselnummer U42.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.1","display":"Nicht belegte Schlüsselnummer U42.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.2","display":"Nicht belegte Schlüsselnummer U42.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.3","display":"Nicht belegte Schlüsselnummer U42.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.4","display":"Nicht belegte Schlüsselnummer U42.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.5","display":"Nicht belegte Schlüsselnummer U42.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.6","display":"Nicht belegte Schlüsselnummer U42.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.7","display":"Nicht belegte Schlüsselnummer U42.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.8","display":"Nicht belegte Schlüsselnummer U42.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42.9","display":"Nicht belegte Schlüsselnummer U42.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.0","display":"Nicht belegte Schlüsselnummer U43.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.1","display":"Nicht belegte Schlüsselnummer U43.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.2","display":"Nicht belegte Schlüsselnummer U43.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.3","display":"Nicht belegte Schlüsselnummer U43.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.4","display":"Nicht belegte Schlüsselnummer U43.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.5","display":"Nicht belegte Schlüsselnummer U43.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.6","display":"Nicht belegte Schlüsselnummer U43.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.7","display":"Nicht belegte Schlüsselnummer U43.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.8","display":"Nicht belegte Schlüsselnummer U43.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43.9","display":"Nicht belegte Schlüsselnummer U43.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.0","display":"Nicht belegte Schlüsselnummer U44.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.1","display":"Nicht belegte Schlüsselnummer U44.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.2","display":"Nicht belegte Schlüsselnummer U44.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.3","display":"Nicht belegte Schlüsselnummer U44.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.4","display":"Nicht belegte Schlüsselnummer U44.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.5","display":"Nicht belegte Schlüsselnummer U44.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.6","display":"Nicht belegte Schlüsselnummer U44.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.7","display":"Nicht belegte Schlüsselnummer U44.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.8","display":"Nicht belegte Schlüsselnummer U44.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44.9","display":"Nicht belegte Schlüsselnummer U44.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.0","display":"Nicht belegte Schlüsselnummer U45.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.1","display":"Nicht belegte Schlüsselnummer U45.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.2","display":"Nicht belegte Schlüsselnummer U45.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.3","display":"Nicht belegte Schlüsselnummer U45.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.4","display":"Nicht belegte Schlüsselnummer U45.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.5","display":"Nicht belegte Schlüsselnummer U45.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.6","display":"Nicht belegte Schlüsselnummer U45.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.7","display":"Nicht belegte Schlüsselnummer U45.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.8","display":"Nicht belegte Schlüsselnummer U45.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45.9","display":"Nicht belegte Schlüsselnummer U45.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.0","display":"Nicht belegte Schlüsselnummer U46.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.1","display":"Nicht belegte Schlüsselnummer U46.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.2","display":"Nicht belegte Schlüsselnummer U46.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.3","display":"Nicht belegte Schlüsselnummer U46.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.4","display":"Nicht belegte Schlüsselnummer U46.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.5","display":"Nicht belegte Schlüsselnummer U46.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.6","display":"Nicht belegte Schlüsselnummer U46.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.7","display":"Nicht belegte Schlüsselnummer U46.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.8","display":"Nicht belegte Schlüsselnummer U46.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46.9","display":"Nicht belegte Schlüsselnummer U46.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.0","display":"Nicht belegte Schlüsselnummer U47.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.1","display":"Nicht belegte Schlüsselnummer U47.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.2","display":"Nicht belegte Schlüsselnummer U47.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.3","display":"Nicht belegte Schlüsselnummer U47.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.4","display":"Nicht belegte Schlüsselnummer U47.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.5","display":"Nicht belegte Schlüsselnummer U47.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.6","display":"Nicht belegte Schlüsselnummer U47.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.7","display":"Nicht belegte Schlüsselnummer U47.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.8","display":"Nicht belegte Schlüsselnummer U47.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47.9","display":"Nicht belegte Schlüsselnummer U47.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U48.0","display":"Nicht belegte Schlüsselnummer U48.0"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U48.1","display":"Nicht belegte Schlüsselnummer U48.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U48.2","display":"Nicht belegte Schlüsselnummer U48.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U48.3","display":"Nicht belegte Schlüsselnummer 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U49.1"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.2","display":"Nicht belegte Schlüsselnummer U49.2"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.3","display":"Nicht belegte Schlüsselnummer U49.3"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.4","display":"Nicht belegte Schlüsselnummer U49.4"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.5","display":"Nicht belegte Schlüsselnummer U49.5"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.6","display":"Nicht belegte Schlüsselnummer U49.6"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.7","display":"Nicht belegte Schlüsselnummer U49.7"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.8","display":"Nicht belegte Schlüsselnummer U49.8"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49.9","display":"Nicht belegte Schlüsselnummer U49.9"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.0","display":"Nicht belegte Schlüsselnummer U98.0!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.1","display":"Nicht belegte Schlüsselnummer U98.1!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.2","display":"Nicht belegte Schlüsselnummer U98.2!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.3","display":"Nicht belegte Schlüsselnummer U98.3!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.4","display":"Nicht belegte Schlüsselnummer U98.4!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.5","display":"Nicht belegte Schlüsselnummer U98.5!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.6","display":"Nicht belegte Schlüsselnummer U98.6!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.7","display":"Nicht belegte Schlüsselnummer U98.7!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.8","display":"Nicht belegte Schlüsselnummer U98.8!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98.9","display":"Nicht belegte Schlüsselnummer U98.9!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.1","display":"Nicht belegte Schlüsselnummer U99.1!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.2","display":"Nicht belegte Schlüsselnummer U99.2!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.3","display":"Nicht belegte Schlüsselnummer U99.3!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.4","display":"Nicht belegte Schlüsselnummer U99.4!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.5","display":"Nicht belegte Schlüsselnummer U99.5!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.6","display":"Nicht belegte Schlüsselnummer U99.6!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.7","display":"Nicht belegte Schlüsselnummer U99.7!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.8","display":"Nicht belegte Schlüsselnummer U99.8!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U99.9","display":"Nicht belegte Schlüsselnummer U99.9!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U13","display":"Nicht belegte Schlüsselnummern U13.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U14","display":"Nicht belegte Schlüsselnummern U14.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U15","display":"Nicht belegte Schlüsselnummern U15.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U16","display":"Nicht belegte Schlüsselnummern U16.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U17","display":"Nicht belegte Schlüsselnummern U17.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U18","display":"Nicht belegte Schlüsselnummern U18.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U19","display":"Nicht belegte Schlüsselnummern U19.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U20","display":"Nicht belegte Schlüsselnummern U20.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U21","display":"Nicht belegte Schlüsselnummern U21.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U22","display":"Nicht belegte Schlüsselnummern U22.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U23","display":"Nicht belegte Schlüsselnummern U23.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U24","display":"Nicht belegte Schlüsselnummern U24.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U25","display":"Nicht belegte Schlüsselnummern U25.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U26","display":"Nicht belegte Schlüsselnummern U26.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U27","display":"Nicht belegte Schlüsselnummern U27.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U28","display":"Nicht belegte Schlüsselnummern U28.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U29","display":"Nicht belegte Schlüsselnummern U29.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U30","display":"Nicht belegte Schlüsselnummern U30.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U31","display":"Nicht belegte Schlüsselnummern U31.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U32","display":"Nicht belegte Schlüsselnummern U32.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U33","display":"Nicht belegte Schlüsselnummern U33.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U34","display":"Nicht belegte Schlüsselnummern U34.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U35","display":"Nicht belegte Schlüsselnummern U35.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U36","display":"Nicht belegte Schlüsselnummern U36.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U37","display":"Nicht belegte Schlüsselnummern U37.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U38","display":"Nicht belegte Schlüsselnummern U38.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U39","display":"Nicht belegte Schlüsselnummern U39.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U40","display":"Nicht belegte Schlüsselnummern U40.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U41","display":"Nicht belegte Schlüsselnummern U41.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U42","display":"Nicht belegte Schlüsselnummern U42.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U43","display":"Nicht belegte Schlüsselnummern U43.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U44","display":"Nicht belegte Schlüsselnummern U44.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U45","display":"Nicht belegte Schlüsselnummern U45.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U46","display":"Nicht belegte Schlüsselnummern U46.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U47","display":"Nicht belegte Schlüsselnummern U47.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U48","display":"Nicht belegte Schlüsselnummern U48.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U49","display":"Nicht belegte Schlüsselnummern U49.-"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U98","display":"Nicht belegte Schlüsselnummern U98.-!"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z75.9","display":"Nicht näher bezeichnetes Problem mit Bezug auf medizinische Betreuungsmöglichkeiten oder andere Gesundheitsversorgung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.80","display":"Nicht-nosokomiale Sepsis"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.83","display":"Nicht-nosokomialer septischer Schock"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z91.1","display":"Nichtbefolgung ärztlicher Anordnungen [Non-compliance] in der Eigenanamnese"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z52.4","display":"Nierenspender"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.81","display":"Nosokomiale Sepsis"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.84","display":"Nosokomialer septischer Schock"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U11","display":"Notwendigkeit der Impfung gegen COVID-19"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U11.9","display":"Notwendigkeit der Impfung gegen COVID-19, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z51.83","display":"Opiatsubstitution"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50.6","display":"Orthoptische Übungen [Sehschule]"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z47.9","display":"Orthopädische Nachbehandlung, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z51.5","display":"Palliativbehandlung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z76.9","display":"Person, die das Gesundheitswesen aus nicht näher bezeichneten Gründen in Anspruch nimmt"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z80-Z99","display":"Personen mit potentiellen Gesundheitsrisiken aufgrund der Familien- oder Eigenanamnese und bestimmte Zustände, die den Gesundheitszustand beeinflussen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z55-Z65","display":"Personen mit potentiellen Gesundheitsrisiken aufgrund sozioökonomischer oder psychosozialer Umstände"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z76","display":"Personen, die das Gesundheitswesen aus sonstigen Gründen in Anspruch nehmen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z70-Z76","display":"Personen, die das Gesundheitswesen aus sonstigen Gründen in Anspruch nehmen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z76.8","display":"Personen, die das Gesundheitswesen aus sonstigen näher bezeichneten Gründen in Anspruch nehmen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z71","display":"Personen, die das Gesundheitswesen zum Zwecke anderer Beratung oder ärztlicher Konsultation in Anspruch nehmen, anderenorts nicht klassifiziert"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z53","display":"Personen, die Einrichtungen des Gesundheitswesens wegen spezifischer Maßnahmen aufgesucht haben, die aber nicht durchgeführt wurden"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.22","display":"Porcines Influenza-Virus, nachgewiesen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U09","display":"Post-COVID-19-Zustand"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U09.9","display":"Post-COVID-19-Zustand, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z72.9","display":"Problem mit Bezug auf die Lebensführung, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z74.9","display":"Problem mit Bezug auf Pflegebedürftigkeit, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z72","display":"Probleme mit Bezug auf die Lebensführung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z75","display":"Probleme mit Bezug auf medizinische Betreuungsmöglichkeiten oder andere Gesundheitsversorgung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z74","display":"Probleme mit Bezug auf Pflegebedürftigkeit"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z73","display":"Probleme mit Bezug auf Schwierigkeiten bei der Lebensbewältigung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z74.0","display":"Probleme mit Bezug auf: Hilfsbedürftigkeit wegen eingeschränkter Mobilität"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z72.0","display":"Probleme mit Bezug auf: Konsum von Alkohol, Tabak, Arzneimitteln oder Drogen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z74.2","display":"Probleme mit Bezug auf: Notwendigkeit der Hilfeleistung im Haushalt, wenn kein anderer Haushaltsangehöriger die Betreuung übernehmen kann"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z74.1","display":"Probleme mit Bezug auf: Notwendigkeit der Hilfestellung bei der Körperpflege"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z74.3","display":"Probleme mit Bezug auf: Notwendigkeit der ständigen Beaufsichtigung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U81.07","display":"Proteus mirabilis mit Multiresistenz 2MRGN NeoPäd"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U81.27","display":"Proteus mirabilis mit Multiresistenz 3MRGN"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U81.47","display":"Proteus mirabilis mit Multiresistenz 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Familienanamnese"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U63","display":"Psychische und Verhaltensstörungen bei Demenz"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50.4","display":"Psychotherapie, anderenorts nicht klassifiziert"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U63.0","display":"Psychotische Symptome bei Demenz"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50.9","display":"Rehabilitationsmaßnahme, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50","display":"Rehabilitationsmaßnahmen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50.2","display":"Rehabilitationsmaßnahmen bei Alkoholismus"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50.3","display":"Rehabilitationsmaßnahmen bei Arzneimittel- oder Drogenabhängigkeit"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z50.0","display":"Rehabilitationsmaßnahmen bei Herzkrankheit"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54","display":"Rekonvaleszenz"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.2","display":"Rekonvaleszenz nach Chemotherapie"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.0","display":"Rekonvaleszenz nach chirurgischem Eingriff"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.4","display":"Rekonvaleszenz nach Frakturbehandlung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.7","display":"Rekonvaleszenz nach kombinierter Behandlung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.9","display":"Rekonvaleszenz nach nicht näher bezeichneter Behandlung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.3","display":"Rekonvaleszenz nach Psychotherapie"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.8","display":"Rekonvaleszenz nach sonstiger Behandlung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z54.1","display":"Rekonvaleszenz nach Strahlentherapie"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.40","display":"Rekurrente Infektion mit Clostridium difficile"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z91","display":"Risikofaktoren in der Eigenanamnese, anderenorts nicht klassifiziert"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.72","display":"Schwere Hypoglykämie ohne Koma"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U51.2","display":"Schwere kognitive Funktionseinschränkung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U51.20","display":"Schwere kognitive Funktionseinschränkung: Erweiterter Barthel-Index: 0-15 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Art des Konsums psychotroper Substanzen bei durch diese verursachten psychischen und Verhaltensstörungen:Intravenöser Konsum sonstiger psychotroper Substanzen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.4","display":"Sekundäre Schlüsselnummern für die Spezifizierung von Infektionen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.7","display":"Sekundäre Schlüsselnummern zur Angabe des Schweregrades einer Hypoglykämie, des Vorliegens einer Hypoglykämiewahrnehmungsstörung oder einer Insulinresistenz"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.5","display":"Sekundäre Schlüsselnummern zur Angabe mehrerer Regionen bei sekundärer und nicht näher bezeichneter bösartiger Neubildung der Lymphknoten"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.0","display":"Sekundäre Schlüsselnummern zur Spezifizierung des zeitlichen Bezugs einer anderenorts klassifizierten Pneumonie zur stationären 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Penicillin, Oxacillin, Makrolid-Antibiotika, Oxazolidinone oder Streptogramine"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U69.12","display":"Temporäre Blutgerinnungsstörung"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U12","display":"Unerwünschte Nebenwirkungen bei der Anwendung von COVID-19-Impfstoffen"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"U12.9","display":"Unerwünschte Nebenwirkungen bei der Anwendung von COVID-19-Impfstoffen, nicht näher bezeichnet"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z90.6","display":"Verlust anderer Teile des Harntraktes"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z90.4","display":"Verlust anderer Teile des Verdauungstraktes"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z89.1","display":"Verlust der Hand und des Handgelenkes, einseitig"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z90.2","display":"Verlust der Lunge [Teile der Lunge]"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z90.1","display":"Verlust der Mamma(e) [Brustdrüse]"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z90.5","display":"Verlust der Niere(n)"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z89.2","display":"Verlust der oberen Extremität oberhalb des Handgelenkes, einseitig"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z89.6","display":"Verlust der unteren Extremität oberhalb des Knies, einseitig"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z89.5","display":"Verlust der unteren Extremität unterhalb oder bis zum Knie, einseitig"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z89.4","display":"Verlust des Fußes und des Knöchels, einseitig"},{"system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","code":"Z89.0","display":"Verlust eines oder mehrerer Finger [einschließlich Daumen], 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#244

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#245

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2falpha-id HTTP/1.1
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#246

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Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://fhir.de/CodeSystem/bfarm/alpha-id"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

400
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:35 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:38533a46-71f0-46d6-93ff-0c4086fdc56f
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-request-id:38533a46-71f0-46d6-93ff-0c4086fdc56f
x-xss-protection:0

{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"invalid","details":{"text":"[17cdfc4f-4516-4796-9323-662e3f47df17]: A code/system pair must be provided."},"diagnostics":"[17cdfc4f-4516-4796-9323-662e3f47df17]: A code/system pair must be provided."},{"severity":"information","code":"informational","diagnostics":"X-Request-Id: 38533a46-71f0-46d6-93ff-0c4086fdc56f"}]}

#247

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2falpha-id&version=2025 HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:35 GMT
etag:W/"1788064427853"
last-modified:Tue, 06 Oct 2026 13:27:35 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:7574036f-d0d2-4b19-bc5e-a54c70089865
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:7574036f-d0d2-4b19-bc5e-a54c70089865
x-xss-protection:0

{"resourceType":"Bundle","id":"a662fc50-ebff-3279-9208-b729c5a1263b","meta":{"lastUpdated":"2026-10-06T13:27:35.834+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":0,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Falpha-id&version=2025"}]}

#248

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2ffhir.de%2fCodeSystem%2fbfarm%2falpha-id HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:35 GMT
etag:W/"1790229480557"
last-modified:Tue, 06 Oct 2026 13:27:35 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:facd4236-50fe-4580-84c7-97f650e25981
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:facd4236-50fe-4580-84c7-97f650e25981
x-xss-protection:0

{"resourceType":"Bundle","id":"a4ba481c-2af7-338b-9e6f-0bab2790a35b","meta":{"lastUpdated":"2026-10-06T13:27:35.850+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":1,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Ffhir.de%2FCodeSystem%2Fbfarm%2Falpha-id"}],"entry":[{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/alpha-id-2026","resource":{"resourceType":"CodeSystem","id":"alpha-id-2026","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:01:14.301+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://fhir.de/CodeSystem/bfarm/alpha-id","version":"2026","name":"AlphaID","title":"Alpha-ID 2026 (BfArM)","status":"active","experimental":false,"publisher":"Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM)","caseSensitive":true,"content":"complete","count":90898,"property":[{"code":"inactive","uri":"http://hl7.org/fhir/concept-properties#inactive","description":"Der Kode wurde im Pflegeverfahren gestrichen (Feld Gültigkeit = 0)","type":"boolean"},{"code":"icd10gm","description":"Primärschlüsselnummer 1 (ICD-10-GM)","type":"string"},{"code":"icd10gm-star","description":"Sternschlüsselnummer","type":"string"},{"code":"icd10gm-additional","description":"Zusatzschlüsselnummer","type":"string"},{"code":"icd10gm-secondary","description":"Primärschlüsselnummer 2","type":"string"},{"code":"orphanet","description":"Orpha-Kennnummer","type":"string"}]}}]}

#249

POST https://tx.fhir.de/fhir/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://fhir.de/CodeSystem/bfarm/alpha-id","version":"2025"}]}}}]}

404
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:35 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:bc8c31ae-ca12-4e60-84ca-6a70c18907a4
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-request-id:bc8c31ae-ca12-4e60-84ca-6a70c18907a4
x-xss-protection:0

{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"[0187bb1d-4283-49fd-9c37-60252fa64995]: A usable code system with URL http://fhir.de/CodeSystem/bfarm/alpha-id|2025 could not be resolved."},"diagnostics":"[0187bb1d-4283-49fd-9c37-60252fa64995]: A usable code system with URL http://fhir.de/CodeSystem/bfarm/alpha-id|2025 could not be resolved."},{"severity":"information","code":"informational","diagnostics":"X-Request-Id: bc8c31ae-ca12-4e60-84ca-6a70c18907a4"}]}

#250

POST https://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"diagnostics","valueBoolean":true}]}

200
access-control-allow-credentials:true
connection:keep-alive
content-length:732
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:35 GMT
etag:W/"2dc-TJmQQMZi8m06EB9watZ7EOcp+w8"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-113200

{"resourceType":"Parameters","parameter":[{"name":"result","valueBoolean":false},{"name":"message","valueString":"Coding has no code for system http://snomed.info/sct and cannot be validated"},{"name":"issues","resource":{"resourceType":"OperationOutcome","issue":[{"severity":"warning","code":"invalid","details":{"text":"Coding has no code for system http://snomed.info/sct and cannot be validated","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"invalid-data"}]},"expression":["Coding"]}]}},{"name":"diagnostics","valueString":"0ms tx-op\n0ms http://snomed.info/sct/vs|http://snomed.info/sct/900000000000207008/version/20250201: Validate \"[http://snomed.info/sct#undefined (\"undefined\")]\""}]}

#251

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
Content-Type: application/fhir+json; fhirVersion=4.0;charset=UTF-8
X-Cache-Id: 1fc3434a-c861-4f88-9b2e-88bede0e4003
User-Agent: fhir/publisher

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"defaultDisplayLanguage","valueCode":"en-US"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"count","valueInteger":1000},{"name":"offset","valueInteger":0},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://snomed.info/sct","version":"http://snomed.info/sct/900000000000207008/version/20250701","filter":[{"property":"concept","op":"is-a","value":"404684003"}]}]}}}]}

422
access-control-allow-credentials:true
connection:keep-alive
content-length:1144
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:36 GMT
etag:W/"478-ukxb60uA4wzZQlIIJpRH0P5Rlik"
server:nginx
vary:Origin
x-powered-by:Express
x-request-id:tx-113201

{"resourceType":"OperationOutcome","issue":[{"severity":"error","code":"not-found","details":{"text":"A definition for CodeSystem 'http://snomed.info/sct' version 'http://snomed.info/sct/900000000000207008/version/20250701' could not be found, so the value set cannot be expanded. Valid versions: http://snomed.info/sct/11000146104/version/20240930, http://snomed.info/sct/2011000195101/version/20230607, http://snomed.info/sct/554471000005108/version/20260331, http://snomed.info/sct/731000124108/version/20230301, http://snomed.info/sct/731000124108/version/20240301, http://snomed.info/sct/731000124108/version/20250901, http://snomed.info/sct/827022005/version/20241216, http://snomed.info/sct/83821000000107/version/20230412, http://snomed.info/sct/900000000000207008/version/20240201, http://snomed.info/sct/900000000000207008/version/20250201 and http://snomed.info/xsct/31000003106/version/20250909","coding":[{"system":"http://hl7.org/fhir/tools/CodeSystem/tx-issue-type","code":"not-found"}]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/operationoutcome-message-id","valueString":"UNKNOWN_CODESYSTEM_VERSION_EXP"}]}]}

#252

GET https://tx.fhir.de/fhir/CodeSystem?url=http%3a%2f%2fwww.orpha.net HTTP/1.1
User-Agent: hapi-fhir-tooling-client
Accept: application/fhir+json; fhirVersion=4.0

200
cache-control:no-cache
content-type:application/fhir+json;charset=UTF-8
date:Tue, 06 Oct 2026 13:27:36 GMT
etag:W/"1789256784122"
last-modified:Tue, 06 Oct 2026 13:27:36 GMT
server:nginx
strict-transport-security:max-age=31536000 ; includeSubDomains
vary:Origin
vary:Access-Control-Request-Method
vary:Access-Control-Request-Headers
vary:Accept,Origin,Accept-Encoding,Accept-Language,Authorization
x-content-type-options:nosniff
x-correlation-id:a4808fc6-1409-4c29-beca-d0f8e82d1051
x-frame-options:DENY
x-powered-by:HAPI FHIR 8.8.0 REST Server (FHIR Server; FHIR 4.0.1/R4)
x-powered-by:PleskLin
x-request-id:a4808fc6-1409-4c29-beca-d0f8e82d1051
x-xss-protection:0

{"resourceType":"Bundle","id":"0b217023-5350-39e9-9a1d-659a42a6a282","meta":{"lastUpdated":"2026-10-06T13:27:36.379+00:00","tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"type":"searchset","total":1,"link":[{"relation":"self","url":"https://tx.fhir.de/fhir/CodeSystem?_summary=true&url=http%3A%2F%2Fwww.orpha.net"}],"entry":[{"fullUrl":"https://tx.fhir.de/fhir/CodeSystem/902e42e3-0c0a-5080-8309-3b2dfbbc8dcb","resource":{"resourceType":"CodeSystem","id":"902e42e3-0c0a-5080-8309-3b2dfbbc8dcb","meta":{"versionId":"1","lastUpdated":"2026-09-23T11:01:09.879+00:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"],"tag":[{"system":"http://terminology.hl7.org/CodeSystem/v3-ObservationValue","code":"SUBSETTED","display":"Resource encoded in summary mode"}]},"url":"http://www.orpha.net","version":"2026.0.0","name":"ORPHAcodes","title":"ORPHAcodes for identification / coding of rare diseases","status":"active","experimental":false,"date":"2026-08-10","publisher":"INSERM, US14 - Orphanet","contact":[{"telecom":[{"system":"email","value":"contact.orphanet@inserm.fr"}]}],"caseSensitive":true,"versionNeeded":true,"content":"complete","count":11645,"property":[{"code":"inactive","uri":"http://hl7.org/fhir/concept-properties#inactive","description":"True if the concept is not considered active - e.g. not a valid concept any more. Property type is boolean, default value is false","type":"boolean"},{"code":"ExpertLink","description":"Stable URL leading to the specific page of a given disease on the Orphanet website.","type":"string"},{"code":"AggregationLevel","description":"Recommended ORPHAcode for data sharing and statistical reporting in Europe for a given diagnosis. Applies to every Disorder and Subtype, which is always associated with one AggregationLevel that is necessarily a Disorder","type":"code"}]}}]}

#253

GET https://tx.hl7.cz/r4/metadata HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
User-Agent: fhir/publisher

200
access-control-allow-credentials:true
connection:Keep-Alive
content-length:4028
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:37 GMT
etag:W/"fbc-0i4VfZNTVJMe2tdupYQb4FSIF4I"
keep-alive:timeout=5, max=100
server:Apache/2.4.68 (Debian)
vary:Origin
x-powered-by:Express
x-request-id:tx-57708

{"resourceType":"CapabilityStatement","id":"FhirServer","extension":[{"extension":[{"url":"definition","valueCanonical":"http://hl7.org/fhir/uv/tx-tests/FeatureDefinition/test-version"},{"url":"value","valueCode":"1.9.5-SNAPSHOT"},{"extension":[{"url":"name","valueCode":"mode"},{"url":"value","valueCode":"tx.fhir.org"}],"url":"qualifier"}],"url":"http://hl7.org/fhir/uv/application-feature/StructureDefinition/feature"},{"extension":[{"url":"definition","valueCanonical":"http://hl7.org/fhir/uv/tx-ecosystem/FeatureDefinition/CodeSystemAsParameter"},{"url":"value","valueBoolean":true}],"url":"http://hl7.org/fhir/uv/application-feature/StructureDefinition/feature"}],"url":"http://tx.hl7.cz/r4/CapabilityStatement/tx","version":"4.0.1-0.14.1","name":"FHIRTerminologyServer","title":"FHIR Terminology Server","status":"active","date":"2026-10-06T13:27:37.106Z","contact":[{"telecom":[{"system":"other","value":"http://example.org/"}]}],"description":"FHIR Terminology Server","kind":"instance","instantiates":["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software":{"name":"FHIRsmith","version":"0.14.1","releaseDate":"2026-10-06T13:27:37.106Z"},"implementation":{"description":"FHIR Server running at http://tx.hl7.cz/r4","url":"http://tx.hl7.cz/r4"},"fhirVersion":"4.0.1","format":["application/fhir+xml","application/fhir+json"],"rest":[{"mode":"server","security":{"cors":true},"resource":[{"type":"CodeSystem","interaction":[{"code":"read","documentation":"Read a code system"},{"code":"search-type","documentation":"Search the code systems"}],"searchParam":[{"name":"url","type":"uri"},{"name":"version","type":"token"},{"name":"name","type":"string"},{"name":"title","type":"string"},{"name":"status","type":"token"},{"name":"_id","type":"token"}],"operation":[{"name":"lookup","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-lookup"},{"name":"validate-code","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-validate-code"},{"name":"subsumes","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-subsumes"}]},{"type":"ValueSet","interaction":[{"code":"read","documentation":"Read a ValueSet"},{"code":"search-type","documentation":"Search the value sets"}],"searchParam":[{"name":"url","type":"uri"},{"name":"version","type":"token"},{"name":"name","type":"string"},{"name":"title","type":"string"},{"name":"status","type":"token"},{"name":"_id","type":"token"}],"operation":[{"name":"expand","definition":"http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name":"validate-code","definition":"http://hl7.org/fhir/OperationDefinition/ValueSet-validate-code"},{"name":"compare","definition":"http://hl7.org/fhir/tools/OperationDefinition/ValueSet-compare"}]},{"type":"ConceptMap","interaction":[{"code":"read","documentation":"Read a ConceptMap"},{"code":"search-type","documentation":"Search the concept maps"}],"searchParam":[{"name":"url","type":"uri"},{"name":"version","type":"token"},{"name":"name","type":"string"},{"name":"title","type":"string"},{"name":"status","type":"token"},{"name":"_id","type":"token"}],"operation":[{"name":"translate","definition":"http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"}]}],"interaction":[{"code":"transaction"}],"operation":[{"name":"expand","definition":"http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name":"lookup","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-lookup"},{"name":"subsumes","definition":"http://hl7.org/fhir/OperationDefinition/CodeSystem-subsumes"},{"name":"validate-code","definition":"http://hl7.org/fhir/OperationDefinition/Resource-validate-code"},{"name":"translate","definition":"http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"},{"name":"compare","definition":"http://hl7.org/fhir/tools/OperationDefinition/ValueSet-compare"},{"name":"cache-control","definition":"http://hl7.org/fhir/tools/OperationDefinition/cache-control"},{"name":"versions","definition":"http://hl7.org/fhir/OperationDefinition/fhir-versions"}]}]}

#254

GET https://tx.hl7.cz/r4/metadata?mode=terminology HTTP/1.1
Accept: application/fhir+json; fhirVersion=4.0
User-Agent: fhir/publisher

200
access-control-allow-credentials:true
connection:Keep-Alive
content-length:320141
content-type:application/fhir+json; charset=utf-8
date:Tue, 06 Oct 2026 13:27:37 GMT
etag:W/"4e28d-FFeBaKb3ivA3Urf5UpGe6HHaSSY"
keep-alive:timeout=5, max=99
server:Apache/2.4.68 (Debian)
vary:Origin
x-powered-by:Express
x-request-id:tx-57709

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It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. 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Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. 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Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. 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In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. 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Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. 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Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Refrakterní anémie s nadbytkem blastů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RAEB-t"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RAEB-T"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"8","display":"47,XYY syndrome","definition":"A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom 47,XYY"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Double Y syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jacobs syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"XYY syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Y disomy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dizomie Y"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dvojité Y"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1636","display":"Distal monosomy 7q36 syndrome","definition":"Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). 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It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. 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It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myeloidní neoplázie spojená s přestavbou PDGFRB"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"168947","display":"Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement","definition":"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myeloidní neoplázie spojená s přestavbou PDGFRA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1598","display":"Monosomy 18p syndrome","definition":"A rare deletion of all or part of the short arm of chromosome 18 characterized by a highly variable phenotype, most commonly including global developmental delay, short stature, and dysmorphic facial features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Monozomie 18p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"18p- syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"De Grouchy syndrome type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"18p- syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom De Grouchyho"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"168943","display":"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myeloidní neoplázie spojená s eozinofilií a abnormalitou PDGFRA, PDGFRB nebo FGFR1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"168940","display":"Chronic eosinophilic leukemia","definition":"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická eozinofilní leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2773","display":"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující osteogenesis imperfecta, retinopatii, záchvaty a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Al Gazali-Nair syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Al Gazaliové-Nairův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Al Gazali-Nairův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2772","display":"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","definition":"A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující osteogenesis imperfecta, mikrocefalii a kataraktu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2609","display":"Isolated complex I deficiency","definition":"Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaný deficit komplexu I"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated NADH-CoQ reductase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated NADH-coenzyme Q reductase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated NADH-ubiquinone reductase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated mitochondrial respiratory chain complex I deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaný deficit NADH-CoQ reduktázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaný deficit NADH-koenzym Q reduktázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaný deficit NADH-ubichinon reduktázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaný deficit mitochondriálního respiračního řetězce komplexu I"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"169361","display":"Immune dysregulation disease with immunodeficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom imunitní dysregulace s imunodeficiencí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"626","display":"Large/giant congenital melanocytic nevus","definition":"A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený obrovský melanocytární névus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGCMN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Large/giant CMN syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Large/giant congenital pigmented nevus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený pigmentový névus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"GMN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Obrovský vrozený melanocytární névus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Obrovský pigmentový vlasový névus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LCMN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"773","display":"Adult Refsum disease","definition":"A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Refsumova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Classic Refsum disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HMSN 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HMSN IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary motor and sensory neuropathy type 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary motor and sensory neuropathy type IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Heredopathia atactica polyneuritiformis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Phytanic-CoA hydroxylase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Refsumova choroba, adultní forma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Klasická Refsumova choroba"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HMSN 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární motorická a senzitivní neuropatie, typ IV"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Heredopathia atactica polyneuritiformis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit fytan-CoA hydroxylázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"11","display":"Pentasomy X syndrome","definition":"A rare sex-chromosome number anomaly characterized by the presence of five X chromosomes in females instead of the usual two. 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Patients present in infancy or early childhood with recurrent infections. 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Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. 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Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. 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Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. 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Urinary tract anomalies are frequently associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uterus unicornis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete unilateral Müllerian aplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete unilateral aplasia of the Müllerian ducts"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Unicornuate uterus without rudimentary horn"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Úplná jednostranná Müllerova aplázie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kompletní jednostranná aplázie Müllerových vývodů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"180122","display":"Septate uterus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uterus septus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"180118","display":"NON RARE IN EUROPE: Cordiform uterus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Srdcovitá děloha"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Uterus arcuatus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Uterus cordiformis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NON RARE IN EUROPE: Uterus arcuatus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180118"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"180114","display":"Unicervical bicornuate uterus","definition":"A rare non-syndromic uterine malformation characterized by a uterus with two uterine horns and only one cervix, resulting from a failure in the fusion of the two Müllerian structures. Depending on the degree of the fusion deficiency, the malformation may be complete with the cavities separated up to the internal orifice of the cervix and not linked, or partial when there is some linkage. Patients may present recurrent pregnancy loss or preterm labor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uterus bicornis unicollis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"180111","display":"Bicervical bicornuate uterus with patent cervix and vagina","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uterus bicornis bicollis s persistujícím čípkem a pochvou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"180086"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"180134","display":"Bicornuate uterus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uterus bicornis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"180139","display":"Uterine hypoplasia","definition":"A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypoplázie dělohy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"180126","display":"Complete septate uterus","definition":"Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. 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Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ageneze a aplázie těla dělohy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"180145","display":"Uterine cervical aplasia and agenesis","definition":"A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. 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Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sirenomelie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"816","display":"Sjögren-Larsson syndrome","definition":"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sjogrenův-Larssonův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fatty acid alcohol oxidoreductase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit oxidoreduktázy alkoholů mastných kyselin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sjogren-Larssonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"821","display":"Sotos syndrome","definition":"A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sotosův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebral gigantism"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cerebrální gigantismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3173","display":"Infantile spasms-broad thumbs syndrome","definition":"Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. 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Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom citlivosti vůči UV záření"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3137","display":"Alpha-N-acetylgalactosaminidase deficiency","definition":"A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit alfa-N-acetylgalaktosaminidázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NAGA deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Schindler disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NAGA deficit"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Schindlerova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3435","display":"NON RARE IN EUROPE: Vitiligo","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Vitiligo"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3435"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"178342","display":"Inflammatory myofibroblastic tumor","definition":"Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Inflamatorní myofibroblastický tumor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"178544","display":"Primary cutaneous diffuse large B-cell lymphoma, leg type","definition":"A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní difúzní velkobuněčný B-lymfom dolních končetin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCDLBCL,LT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PCDLBCL,LT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"178540","display":"Primary cutaneous follicle center lymphoma","definition":"A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní B-lymfom z folikulárních center"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCFCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PCFCL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"117","display":"Behçet disease","definition":"A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Behçetův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"732","display":"Polymyositis","definition":"A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polymyozitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"178536","display":"Primary cutaneous marginal zone B-cell lymphoma","definition":"A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní B-lymfom z marginální zóny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCMZL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PCMZL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"178533","display":"Primary cutaneous gamma/delta-positive T-cell lymphoma","definition":"Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní gama/delta pozitivní T-buněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"221","display":"Dermatomyositis","definition":"A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. 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It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní agresivní epidermotropní CD8+ T-buněčný lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Berti lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bertiho lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární kožní epidermotropní cytotoxický CD8+ T-buněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"204","display":"Sporadic Creutzfeldt-Jakob disease","definition":"A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sporadická Creutzfeldtova-Jakobova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sporadic CJD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sporadická CJD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sporadická Creutzfeldt-Jakobova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"178522","display":"Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma","definition":"A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. 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Growth and development are rather normal, however some affected individuals were reported to have moderate developmental delay, slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient failure to thrive, seizures and sleep apnea. 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Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. 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There are four species (S. dysenteriae, S. flexneri, S. boydii and S. sonnei), all of which cause bacillary dysentery and are strictly limited to human hosts. 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It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. 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Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. 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It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ageneze plic"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171703","display":"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome","definition":"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, polymikrogyrii a agenezi corpus callosum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171706","display":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency","definition":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malý vzrůst a opožděný kostní věk, způsobené deficitem metabolismu thyreoidálních hormonů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171709","display":"Male infertility due to globozoospermia","definition":"Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mužská neplodnost způsobená globozoospermií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Male infertility due to round-headed spermatozoa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Round-headed sperm syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mužská neplodnost způsobená kulatou hlavičkou spermií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"399808"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"171714","display":"Amish infantile epilepsy syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infantilní epileptický syndrom Amišů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující infantilní symptomatickou epilepsii, stagnaci vývoje a slepotu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171714"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"370933"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"370933"}]},{"code":"171719","display":"Cutis laxa-Marfanoid syndrome","definition":"A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující cutis laxa a marfanoidní habitus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1163","display":"Aspergillosis","definition":"A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aspergilóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171723","display":"White sponge nevus","definition":"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičná slizniční leukokeratóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary mucosal leukokeratosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"White sponge nevus of Cannon"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3467","display":"Hereditary xanthinuria","definition":"A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičná xanthinurie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Classic xanthinuria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Xanthic urolithiasis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Xanthine stone disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Klasická xanthinurie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Xanthinová urolitiáza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Xanthinové ledvinné kameny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171673","display":"Limbal stem cell deficiency","definition":"A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit limbálních kmenových buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171676","display":"NON RARE IN EUROPE: Periventricular leukomalacia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Periventrikulární leukomalacie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NON RARE IN EUROPE: PVL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171676"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171680","display":"Lissencephaly due to TUBA1A mutation","definition":"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie způsobená mutací TUBA1A genu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"511","display":"Maple syrup urine disease","definition":"A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leucinóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BCKD deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BCKDH deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Branched-chain 2-ketoacid dehydrogenase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Branched-chain ketoaciduria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSUD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nemoc javorového sirupu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit BCKD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit BCKDH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit dehydrogenázy 2-ketokyselin s větveným řetězcem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"32","display":"Glutathione synthetase deficiency","definition":"A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit glutathion syntetázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pyroglutamicaciduria"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pyroglutamová acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"171684","display":"Idiopathic bilateral vestibulopathy","definition":"Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. 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The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. 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Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. 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Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. 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Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální monozomie 3p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"3p deletion syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"3p- syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal monosomy 3p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 3pter"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric monosomy 3p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"3p- syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální 3p delece"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 3pter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická monozomie 3p"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1611","display":"OBSOLETE: Deletion 20p","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Deletion 20p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Monosomy 20p"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1611"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"261992"}]},{"code":"1643","display":"Xp22.3 microdeletion syndrome","definition":"Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom Xp22.3 mikrodelece"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(X)(p23)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(X)(p23)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1627","display":"Deletion 5q35 syndrome","definition":"Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the <i>NSD1</i> gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of <i>NKX2.5</i> (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Delece 5q35"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del (5)(q35)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del (5)(qter)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal 5q deletion"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 5q35"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric deletion 5q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del (5)(q35)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del (5)(qter)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální 5q delece"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 5q35"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická delece 5q"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1699","display":"Trisomy 12p syndrome","definition":"A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Trizomie 12p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Duplication 12p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Duplikace 12p"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1695","display":"Non-distal duplication 10q syndrome","definition":"Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Non-distální trizomie 10q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-distal trisomy 10q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-telomeric trisomy 10q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Non-distální duplikace 10q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Non-telomerická trizomie 10q"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500","display":"Noonan syndrome with multiple lentigines","definition":"A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Noonanové syndrom s mnohočetnými lentiginózními pigmentacemi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cardiomyopathic lentiginosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial multiple lentigines syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LEOPARD syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kardiomyopatická lentiginóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LEOPARD syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární syndrom mnohočetných lenitginózních névů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"507","display":"Leishmaniasis","definition":"A parasitic disease caused by protozoa of the genus <i>Leishmania</i> (>20 pathogenic species), transmitted by the bite of infected female phlebotomine sandflies. Three main syndromes are recognized: visceral (VL), cutaneous (CL; localized and diffuse forms) and mucocutaneous leishmaniasis. Post-kala-azar dermal leishmaniasis (PKDL) is a cutaneous sequela of VL. Most infections remain asymptomatic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leishmanióza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=507"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"548","display":"Leprosy","definition":"A chronic infectious disease affecting primarily the skin and peripheral nervous system.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lepra"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"233","display":"Duane retraction syndrome","definition":"A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Duaneův retrakční syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DRS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DURS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Duane syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Stilling-Turk-Duane syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DRS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DURS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Duanův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Stillingův-Turkův-Duanův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Duanův retrakční syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Stilling-Turk-Duanův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"657","display":"Congenital isolated hyperinsulinism","definition":"A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. 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This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Konotrunkální srdeční malformace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2495","display":"Meningioma","definition":"A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Meningeom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Meningiom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"569","display":"Familial or sporadic hemiplegic migraine","definition":"A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární nebo sporadická hemiplegická 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Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. 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Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. 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Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akranie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary acalvaria"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"946","display":"OBSOLETE: Acrocephalosyndactyly","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Akrocefalosyndaktylie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Acrocephalosyndactylia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: ACS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=946"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"139393"}]},{"code":"957","display":"Acropectorovertebral dysplasia","definition":"A rare genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). 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Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. 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Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. 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Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aurikuloosteodysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"115","display":"Congenital contractural arachnodactyly","definition":"A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená arachnodaktylie s kontrakturami"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Beals syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Beals-Hecht syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CCA syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal arthrogryposis type 9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CCA syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální artrogrypóza, typ IX"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bealsův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bealsův-Hechtův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Beals-Hechtův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1236","display":"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome","definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mikrobrachycefalii, mentální retardaci a athetoidní mozkovou obrnu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137622","display":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","definition":"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující velmi těžký průjem, atrézii choan a oční anomálie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137617","display":"Nephrogenic systemic fibrosis","definition":"Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nefrogenní systémová fibróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nephrogenic fibrosing dermopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nefrogenní fibrotizující dermopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NSF"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NFD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137617"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1292","display":"Brachymorphism-onychodysplasia-dysphalangism syndrome","definition":"A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující brachymorfismus, onychodysplázii a dysfalangismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BOD syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Senior syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BOD syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Seniorův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137628","display":"Cardiac anomalies-heterotaxy syndrome","definition":"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující srdeční anomálie a heterotaxii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1293","display":"Brachyolmia","definition":"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachyolmie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"137625","display":"Glycogen storage disease due to muscle and heart glycogen synthase deficiency","definition":"Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. 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Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující segmentální výrůstky, lipomatózu, arteriovenózní malformace a epidermální névus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SOLAMEN syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SOLAMEN syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"306498"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"137658","display":"Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, mentální retardaci, anomálie falangů a neurologické anomálie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Woods-Crouchman-Huson syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Woodsův-Crouchmanův-Husonův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Woods-Crouchman-Husonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137658"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3255"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"3255"}]},{"code":"137653","display":"Microcephaly-digital anomalies-intellectual disability syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, anomálie prstů a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kelly-Kirson-Wyatt syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kellyho-Kirsonův-Wyattův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kelly-Kirson-Wyattův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137653"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"313795"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"313795"}]},{"code":"1299","display":"Branchioskeletogenital syndrome","definition":"Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. 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square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachytelefalangie, dysmorfismus a Kallmannův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1296","display":"Lambert syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. 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So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující plicní fibrózu, imunodeficienci a 46,XX gonadální dysgenezi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1297","display":"Branchio-oculo-facial syndrome","definition":"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Branchiookulofaciální syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BOFS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BOFS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137639","display":"Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující leukoencefalopatii, ataxii, hypodoncii a hypomyelinizaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ataxia-delayed dentition-hypomyelination syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ataxii, opožděnou dentici a hypomyelinizaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"289494"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"137577","display":"Neonatal hypoxic and ischemic brain injury","definition":"A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypoxicko-ischemická encefalopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HIE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypoxic and ischemic brain injury in the newborn"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypoxic-ischemic encephalopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Perinatal hypoxia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HIE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Novorozenecká hypoxie a ischemické poškození mozku"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypoxicko-ischemické postižení mozku u novorozence"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137583","display":"Vulvar intraepithelial neoplasia","definition":"A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. 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Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vulvární intraepiteliální neoplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VIN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Vulvar intraepithelial tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vulvární intraepiteliální nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1276","display":"Brachydactyly-arterial hypertension syndrome","definition":"A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. 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Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. 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Intellectual deficit was observed in all reported individuals. 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It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endoteliitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137602"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1166","display":"Congenital unilateral hypoplasia of depressor anguli oris","definition":"A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. 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Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. 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Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. 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The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující pulmonální atrézii a intaktní komorové septum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137932","display":"Congenital laryngeal palsy","definition":"Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená laryngeální paralýza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital vocal cord paralysis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená obrna hlasivek"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"137935","display":"Airway infantile hemangioma","definition":"A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial (\"beard\") distribution.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Laryngotracheální angiom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Airway infantile haemangioma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Laryngotracheal angioma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1449","display":"Ring chromosome 7 syndrome","definition":"Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 7"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141242","display":"Paramedian nasal cleft","definition":"Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paramediální rozštěp nosu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Alar cleft"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Alar rim cleft"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cleft nose"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated cleft of the ala nasi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated coloboma of the nose"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Tessier number 1 cleft"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rozštěp číslo 1 dle Tessiera"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1453","display":"Cleidorhizomelic syndrome","definition":"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kleidorhizomelický syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rhizomelic shortness with clavicular defect"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Wallis-Zieff-Goldblatt syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rhizomelické zkrácení s defektem klavikuly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Wallisův-Zieffův-Goldblattův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Wallis-Zieff-Goldblattův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141239","display":"Median cleft of the upper lip and maxilla","definition":"A rare median facial cleft characterized by a midline vertical cleft through the upper lip and premaxillary bone, which is highly variable in its extent and may also involve the nasal septum and central nervous system. Depending on the severity of the defect, associated manifestations include atrophy of midline structures, hypo-/hypertelorism, monophthalmia, proboscis, nasal deformity, median alveolar cleft, and short upper frenulum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mediální rozštěp horního rtu a maxily"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1440","display":"Ring chromosome 14 syndrome","definition":"A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 14"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 14"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 14"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141234","display":"Median facial cleft","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mediální rozštěp obličeje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Midline facial cleft"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Tessier number 0-14 and 30 facial cleft"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Středočárový rozštěp obličeje"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rozštěp obličeje číslo 0-14 a 30 dle Tessiera"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"1443","display":"Ring chromosome 19 syndrome","definition":"Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 19"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 19"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 19"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141229","display":"Facial cleft","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rozštěp obličeje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Craniofacial cleft"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kraniofaciální rozštěp"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"141261","display":"Tessier number 5 facial cleft","definition":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rozštěp obličeje číslo 5 dle Tessiera"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141258","display":"Tessier number 4 facial cleft","definition":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rozštěp obličeje číslo 4 dle Tessiera"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1458","display":"CODAS syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the co-occurrence of Cerebral, Ocular, Dental, Auricular and Skeletal anomalies (acronym CODAS). CODAS syndrome was first reported and named in 1991. As more patients were described, the phenotype was found to be highly variable; patients do not always present with all the aforementioned features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CODAS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebrooculodentoauriculoskeletal syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cerebrookulodentoaurikuloskeletální 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neurological features of JS associated with congenital hepatic fibrosis (CHF).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Joubertův syndrom s vrozenou jaterní fibrózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COACH syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Gentile syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JS-H"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Joubert syndrome with 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jater"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"140874"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"190","display":"Coats disease","definition":"Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. 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Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Benigní familiární chorea"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BHC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Benign familial chorea"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Benigní hereditární chorea"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141194","display":"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Cerebrofaciální arteriovenózní metamerický syndrom, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: CAMS1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: CAMS1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"141189"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"141189"}]},{"code":"141189","display":"Cerebrofacial arteriovenous metameric syndrome","definition":"A rare, nonhereditary, complex cerebrofacial vascular malformation characterized by multiple ipsilateral arteriovenous malformations (AVMs) with a metameric distribution, affecting various territories of the face with corresponding areas of the brain. The spectrum is highly variable with three types described according to lesion distribution: CAMS&nbsp;1 derives from the medial prosencephalon with concurrent involvement of hypothalamus, nose, forehead; CAMS&nbsp;2 arises from the lateral prosencephalon and involves basal ganglia, optic nerve and retina and maxillo-facial region; CAMS&nbsp;3 derives from the rhombencephalon and involves cerebellum and mandible.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cerebrofaciální arteriovenózní metamerické syndromy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CAMS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CAMS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1426","display":"Greenberg dysplasia","definition":"Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early <i>in utero</i> lethality and affected fetuses are considered as nonviable.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Greenbergové dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HEM dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydrops-ectopic calcification-motheaten syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Skeletal dysplasia, Greenberg type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hydrops, ektopickou kalcifikaci a skeletální dysplázii (kosti mající vzhled prožrání od molů)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Skeletální dysplázie, Greenbergové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141184","display":"Rapidly involuting congenital hemangioma","definition":"A rare congenital hemangioma characterized by benign round or oval-shaped, solitary and raised or infiltrating vascular tumors that are fully formed in utero and differ from non-involuting congenital hemangiomas (NICH) mainly because they undergo rapid postnatal involution.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rychle involující vrozený hemangiom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RICH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rapidly involuting congenital haemangioma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RICH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1427","display":"Autosomal recessive otospondylomegaepiphyseal dysplasia","definition":"Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otospondylomegaepifyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OSMED"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OSMED"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1435","display":"Xq21 microdeletion syndrome","definition":"An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující choroideremii, hluchotu a obezitu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ayazi syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(X)(q21)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy Xq21"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ayaziho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141219","display":"Nasal dorsum fistula","definition":"A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Píštěl/cysta nosního hřbetu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1436","display":"X-linked skeletal dysplasia-intellectual disability syndrome","definition":"A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující skeletální dysplázii a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Christian syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Christianův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141214","display":"Isolated congenital syngnathia","definition":"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená syngnatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital maxillomandibular fusion"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená maxilomandibulární fúze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1432","display":"Autosomal dominant chorioretinopathy-microcephaly syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující autozomálně dominantní chorioretinopatii a mikrocefalii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1432"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2526"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"2526"}]},{"code":"141209","display":"Generalized lymphatic anomaly","definition":"A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Difuzní lymfatická malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diffuse lymphangioma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diffuse lymphangiomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Disseminated lymphangioma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Disseminated 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The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. 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The lesion is lined by labial mucosa. It is potentially susceptible to infection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Komisurální píštěl rtu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1397","display":"Hydrocephaly-cerebellar agenesis syndrome","definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. 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Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Digestivní duplikovaná cysta jazyka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Enteric duplication cyst of the tongue"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Foregut duplication cyst of the tongue"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Gastric duplication cyst of the tongue"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Enterální duplikovaná cysta jazyka"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Gastrická duplikovaná cysta jazyka"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Duplikovaná cysta jazyka foregut = horní část GIT po duodenum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141067","display":"Cervicofacial fibrochondroma","definition":"A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. 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The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná hypoplázie/ageneze mozečku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Near total absence of cerebellum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Subtotal absence of cerebellum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1399","display":"Richards-Rundle syndrome","definition":"Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Richardsův-Rundleho syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ketoaciduria-intellectual disability-ataxia-deafness syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ketoacidurii, mentální retardaci, ataxii a hluchotu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Richards-Rundleho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141077","display":"Epignathus","definition":"Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epignathus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oropharyngeal teratoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Orofaryngeální teratom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"883"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"141074","display":"External auditory canal aplasia/hypoplasia","definition":"A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aplázie/hypoplázie zevního zvukovodu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"External auditory canal stenosis/atresia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Stenóza/atrézie zevního zvukovodu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1401","display":"CHAND syndrome","definition":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CHAND syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Baughman syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CHANDS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Curly hair-ankyloblepharon-nail dysplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CHANDS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Baughmanův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kudrnaté vlasy, ankyloblefaron a dysplázii nehtů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141152","display":"Isolated congenital hypoglossia/aglossia","definition":"A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná vrozená hypoglosie/aglosie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"174","display":"Metaphyseal chondrodysplasia, Schmid type","definition":"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Metafyzární chondrodysplázie, Schmidův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDSC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMCD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141163","display":"Glossopalatine ankylosis","definition":"A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Glosopalatální ankylóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cosack syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cosackův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141168","display":"OBSOLETE: Frontonasal arteriovenous malformation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Frontonazální arteriovenózní malformace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141168"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"707944"}]},{"code":"141171","display":"OBSOLETE: Maxillary arteriovenous malformation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Maxilární arteriovenózní malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Arteriovenous malformation of maxilla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141171"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"707944"}]},{"code":"141174","display":"OBSOLETE: Mandibular arteriovenous malformation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Mandibulární arteriovenózní malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Arteriovenous malformation of mandible"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141174"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"707944"}]},{"code":"1425","display":"Desbuquois syndrome","definition":"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. 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Hydrocephalus and increased intracranial pressure are also reported in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nazální encefalokéla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"199647"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"141121","display":"Congenital subglottic stenosis","definition":"A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená subglotická stenóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141124","display":"Congenital laryngeal cyst","definition":"Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená laryngeální cysta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1421","display":"OBSOLETE: Lethal chondrodysplasia, Seller type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Letální chondrodysplázie, Sellerův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1421"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"93465"}]},{"code":"141127","display":"Congenital tracheal stenosis","definition":"A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená stenóza trachey"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141132","display":"Craniofacial microsomia","definition":"A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Okulo-aurikulo-vertebrální spektrum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OAVS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OAV spectrum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oculoauriculovertebral spectrum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oculo-auriculo-vertebral spectrum"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OAV spektrum"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Unilaterální nebo bilaterální a asymetrická otomandibulární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141136","display":"Otomandibular syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemifaciální mikrosomie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"First branchial arch syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hemifacial microsomia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Laterofacial microsomia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Otomandibular dysostosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom prvního branchiálního oblouku"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Laterální mikrosomie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Otomandibulární dysostóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Otomandibulární syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141136"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"141132"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"141132"}]},{"code":"141145","display":"Hemifacial hyperplasia","definition":"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). 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The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karnosinémie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit karnosinázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21408","display":"Biological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1393","display":"Cerebrocostomandibular syndrome","definition":"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cerebrokostomandibulární syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"157823","display":"Klüver-Bucy syndrome","definition":"A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klüverův-Bucyho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Klüver-Bucyho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"157826","display":"Congenital epulis","definition":"A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kongenitální epulis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital gingival cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital granular cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neumann tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený nádor dásní"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený nádor z granulárních buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"157808","display":"Isolated pseudoarthrosis of the limbs","definition":"A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená pseudoartróza končetin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital pseudoarthrosis of the limbs"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital pseudarthrosis of the limbs"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1390","display":"Night blindness-skeletal anomalies-dysmorphism syndrome","definition":"A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. 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Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. 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Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. 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Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální hereditární motorická neuropatie, Jerash typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive distal spinal muscular atrophy type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"dHMNJ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"dHMNJ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní distální spinální svalová atrofie, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"139573","display":"Hereditary sensory and autonomic neuropathy with deafness and global delay","definition":"This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární senzorická a autonomní neuropatie s hluchotou a celkovým opožděním"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN with deafness and global delay"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN with hearing loss and global delay"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary sensory and autonomic neuropathy with hearing loss and global delay"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN s hluchotou a celkovým opožděním"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1665","display":"Sporadic fetal brain disruption sequence","definition":"Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. 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Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární senzorická a autonomní neuropatie se spastickou paraplegií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mutilating HSAN with spastic paraplegia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN se spastickou 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nevi.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CLOVES syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vrozené lipomatózní přerůstání, vaskulární malformace, epidermální névus a skeletální anomálii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vrozené lipomatózní 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It may be due to hematological diseases, metabolic or neurological disorders, and some erectile dysfunction medications. If the condition continues for several days, abnormal thickening and scarring of the erectile tissue may develop, causing permanent erectile dysfunction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nízkoprůtokový priapismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1555","display":"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome","definition":"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující cutis gyrata, acanthosis nigricans a kraniosynostózu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Beare-Stevenson cutis gyrata syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Beareův-Stevensonův syndrom cutis gyrata"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Beare-Stevensonův syndrom cutis gyrata"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140936","display":"Lelis syndrome","definition":"Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lelisův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ectodermal dysplasia-acanthosis nigricans syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ektodermální dysplázii a acanthosis nigricans"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140941","display":"Short stature due to primary acid-labile subunit deficiency","definition":"A rare growth hormone insensitivity syndrome characterized by moderate postnatal growth delay, markedly low circulating levels of insulin-like growth factor&nbsp;1 (IGF-1) and insulin-like growth factor binding protein&nbsp;3 (IGFBP-3), normal response to growth hormone stimulation test, and insulin insensitivity marked by normal glucose levels and hyperinsulinemia. Additional findings may include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, delayed puberty and bone maturation, and reduced bone mineral density in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malý vzrůst způsobený primárním deficitem acido-labilní podjednotky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140927","display":"Self-limited neonatal/infantile epilepsy","definition":"A rare neonatal/infantile-onset epilepsy syndrome characterized by brief focal seizures between the first days and six months of life in otherwise healthy infants. Seizures often occur in clusters and may include motor symptoms and autonomic signs (including apnea and cyanosis). Occasionally generalized seizures are present. Typically, seizures resolve spontaneously without causing any long-term neurological effects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Benigní familiární novorozenecké a infantilní křeče"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BFNIS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Benign familial neonatal-infantile seizures"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Benign neonatal-infantile epilepsy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SeLFNIE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BFNIS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Benigní novorozenecká a infantilní epilepsie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1553","display":"Curry-Jones syndrome","definition":"Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Curryho-Jonesův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Corpus callosum agenesis-polysyndactyly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující agenezi corpus callosum a polysyndaktylii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Curry-Jonesův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140933","display":"Linear atrophoderma of Moulin","definition":"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lineární Moulinova atrophoderma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140989","display":"Primary angiitis of the central nervous system","definition":"A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární vaskulitida centrálního nervového systému"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated angiitis of the central nervous system"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PACNS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCNSV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary central nervous system vasculitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary vasculitis of the central nervous system"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaná angiitida centrálního nervového systému"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PACNS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PCNSV"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární angiitida centrálního nervového systému"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1566","display":"Dandy-Walker malformation-postaxial polydactyly syndrome","definition":"A rare congenital limb malformation characterized by Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation (characterized by posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus) has a variable expression. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. There have been no further descriptions in the literature since 1999.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující Dandyho-Walkerovu malformaci a postaxiální polydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DWM with postaxial polydactyly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pierquin syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DWM s postaxiální polydaktylií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pierquinův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující Dandy-Walkerovu malformaci a postaxiální polydaktylii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140976","display":"RHYNS syndrome","definition":"A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"RHYNS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující retinitis pigmentosa, hypopituitarismus, nefronoftízu a skeletální dysplázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1563","display":"Dahlberg-Borer-Newcomer syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichoses, and nail abnormalities. 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Anomaly occurs as a tract from the piriform sinus to the thyroid gland. 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Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. 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Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lipodystrofie způsobená deficitem peptidových růstových faktorů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hoepffner-Dreyer-Reimers syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Werner-like syndrome due to combined growth factor deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kombinovaný deficit inzulinu, růstového faktoru 1 podobného inzulinu (IGF1) a epidermálního růstového faktoru (EGF)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hoepffnerův-Dreyerův-Reimersův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom podobný Wernerovu způsobený kombinovaným deficitem růstového faktoru"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hoepffner-Dreyer-Reimersův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141013","display":"First branchial cleft anomaly","definition":"A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomálie první branchiální štěrbiny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"First branchial cleft cyst"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"First branchial cleft fistula"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cysta první branchiální štěrbiny"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Píštěl první branchiální štěrbiny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1571","display":"Knobloch syndrome","definition":"A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Knoblochův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Knobloch-Layer syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinal detachment-occipital encephalocele syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující odchlípení sítnice a okcipitální encefalokélu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Knoblochův-Layerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Knobloch-Layerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"141007","display":"Orofaciodigital syndrome type 9","definition":"A rare developmental disorder of the ciliopathy group characterized by highly arched palate with bifid and lobulated tongue, lingual hamartoma, multiple frenula, bilateral supernumerary lower canines, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, poly- and syndactyly, mild intellectual disability and specific retinal abnormalities mostly retinal coloboma. 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characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kranioektodermální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CED"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sensenbrenner syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CED"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sensenbrennerův 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and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniofaciální dyssynostóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BLSS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bilateral lambdoid and sagittal synostosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated sagittal and bilambdoid craniosynostosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-syndromic sagittal and bilateral lambdoid synostosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1526","display":"OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující kraniosynostózu-synostózy-hypertenzní nefropatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Acro-cephalo-synostosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Allain-Babin-Demarquez syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1526"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"102285"}]},{"code":"1527","display":"Craniosynostosis, Philadelphia type","definition":"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniosynostóza, filadelfský typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"140653","display":"Neuro-ophthalmological disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuro-oftalmologická onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140653"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"1528","display":"Craniotelencephalic dysplasia","definition":"Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniotelencefalická dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1529","display":"Craniofacial-deafness-hand syndrome","definition":"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hluchotu, postižení ruky a kraniofaciální abnormality"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDHS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Craniofacial-hearing loss-hand syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sommer-Young-Wee-Frye syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDHS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sommerové-Young-Weeové-Fryeův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1521","display":"Craniofrontonasal dysplasia-Poland anomaly syndrome","definition":"A rare frontonasal dysplasia characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. There have been no further descriptions in the literature since 1994.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kraniofrontonazální dysplázii a Polandovu anomálii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Webster-Deming syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Websterův-Demingův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Webster-Demingův 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bones.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniometafyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1525","display":"Cranio-osteoarthropathy","definition":"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kranioosteoartropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Currarino disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Currarino idiopathic osteoarthropathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Reginato-Schiapachasse syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Currarinova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Currarinova idiopatická 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Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující faciální dysmorfismus, anorexii, kachexii a anomálie oka a kůže"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FACES syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Friedman-Goodman syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FACES syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Friedmanův-Goodmanův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Friedman-Goodmanův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1968","display":"Flat face-microstomia-ear anomaly syndrome","definition":"Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující plochý obličej, mikrostomii a anomálie ucha"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Blepharophimosis-telecanthus-microstomia syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Simosa craniofacial syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Simosa-Penchaszadeh-Bustos syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující blefarofimózu, telekantus a mikrostomii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Simosův-Penchaszadehův-Bustosové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Simosa-Penchaszadeh-Bustosové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1970","display":"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující faciální dysmorfismus, makrocefalii, myopii a Dandyho-Walkerovu malformaci"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující faciální dysmorfismus, makrocefalii, myopii a Dandy-Walkerovu malformaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1973","display":"Faciocardiorenal syndrome","definition":"A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Faciokardiorenální syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Eastman-Bixler syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Eastmanův-Bixlerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Eastman-Bixlerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1972","display":"Lethal faciocardiomelic dysplasia","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by polyhydramnios, low birth weight, dwarfism, limb anomalies (including hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers&nbsp;I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes&nbsp;I and II) dysmorphic features (including epicanthal folds, abnormal ears, microretrognathia, microstomia, microglossia, glossoptosis and webbed neck) and severe cardiac defects with a rapid fatal course. There have been no further descriptions in the literature since&nbsp;1975.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Letální faciokardiomelická dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1974","display":"Autosomal recessive faciodigitogenital syndrome","definition":"A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní faciodigitogenitální syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aarskog-like syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Facio-digito-genital syndrome, Kuwait type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Teebi-Naguib-Alawadi syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Aarskog-like syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Faciodigitogenitální syndrom, kuvajtský typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Teebiho-Naguibův-Al-Awadiové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Teebi-Naguib-Al-Awadiové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1962","display":"Exostoses-anetodermia-brachydactyly type E syndrome","definition":"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující exostózy, anetodermii a brachydaktylii typu E"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1964","display":"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome","definition":"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující extrasystoly, malý vzrůst, hyperpigmentaci a mikrocefalii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Char-Douglas-Dungan syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Charův-Douglasův-Dunganův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Char-Douglas-Dunganův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1822","display":"Dysplasia epiphysealis hemimelica","definition":"A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemimelická epifyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trevor disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trevorova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1824","display":"Lowry-Wood syndrome","definition":"A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lowryho-Woodův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epiphyseal dysplasia-microcephaly-nystagmus syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující epifyzární dysplázii, mikrocefalii a nystagmus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lowry-Woodův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1952","display":"Epiphyseal stippling-osteoclastic hyperplasia syndrome","definition":"A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pacman dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pacman dysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující epifyzární tečkování a osteoklastickou hyperplázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1954","display":"Congenital lethal erythroderma","definition":"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená letální erytrodermie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1955","display":"Spinocerebellar ataxia type 34","definition":"An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 34"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Erythrokeratodermia with ataxia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA34"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spinocerebellar ataxia and erythrokeratodermia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Erytrokeratodermie s ataxií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA34"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spinocerebelární ataxie a erytrokeratodermie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1956","display":"OBSOLETE: Erythromelalgia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Erytromelalgie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1956"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"90026"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"90026"}]},{"code":"1926","display":"Diabetic embryopathy","definition":"A rare teratologic disease characterized by a range of congenital anomalies associated with poorly controlled maternal diabetes, frequently including abnormalities of the cardiovascular or central nervous system as well as other organ systems, such as skeletal and craniofacial systems. In addition to embryopathy, uncontrolled maternal diabetes can lead to fetal/neonatal complications (including metabolic, respiratory or delivery complications).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Diabetická embryopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diabetes-induced teratogenicity"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2209","display":"Maternal phenylketonuria syndrome","definition":"A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální fenylketonurie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hyperphenylalaninemic embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Maternal PKU syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Maternal hyperphenylalaninemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Phenylketonuric embryopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hyperfenylalaninemická embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maternální PKU"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maternální hyperfenylalaninemie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fenylketonurická embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1927","display":"Emery-Nelson syndrome","definition":"A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Emeryho-Nelsonové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hand and foot deformity-flat facies syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující deformity ruky a nohy a plochý obličej"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Emery-Nelsonové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1937","display":"Eng-Strom syndrome","definition":"A rare malformation syndrome with short stature characterized by intrauterine growth retardation and intermittent locking of the finger joints. Ventricular septal defect can also be present. There have been no further descriptions in the literature since 1987.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Engové-Stromův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short stature-locking fingers syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Locking-fingers syndrom s malým vzrůstem"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Eng-Stromův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1940","display":"Shoulder and thorax deformity-congenital heart disease syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující deformity ramene a hrudníku a vrozenou srdeční vadu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1940"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"392"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"392"}]},{"code":"1920","display":"Toluene embryopathy","definition":"A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Toluenová embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1919","display":"Phenobarbital embryopathy","definition":"A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, &#64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fenobarbitalová embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1917","display":"Fetal methylmercury syndrome","definition":"A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální metylrtuťový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital Minamata disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fetal methylmercury poisoning"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intrauterine methylmercury poisoning"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Prenatal methylmercury poisoning"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nemoc zálivu Minamata"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1923","display":"Methimazole embryofetopathy","definition":"A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Methimazolová embryopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMI/CMZ embryofetopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMI/CMZ embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Methimazole/carbimazole embryofetopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Methimazole/carbimazole embryopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Karbimazolová embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1912","display":"Fetal hydantoin syndrome","definition":"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální hydantoinový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fetal dihydantoin syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Phenytoin embryofetopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fenytoinová embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1918","display":"Fetal minoxidil syndrome","definition":"Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální minoxidilový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Minoxidil antenatal exposure"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1911","display":"Cocaine embryofetopathy","definition":"Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed <i>in utero</i> to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kokainová embryofetopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fetal cocaine syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fetální kokainový syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1910","display":"Fetal iodine syndrome","definition":"Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální jodový syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1916","display":"Diethylstilbestrol syndrome","definition":"A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Diethylstilbestrolový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DES syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diethylstilbestrol embryofetopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distilbene embryofetopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DES embryofetopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DES embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DES syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Diethylstilbestrolová embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distilbenová embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"294","display":"Fetal cytomegalovirus syndrome","definition":"A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus <i>in utero</i>. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální cytomegalovirový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Antenatal CMV infection"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Antenatal cytomegalovirus infection"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mother-to-child transmission of cytomegalovirus syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Prenatální CMV infekce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Prenatální cytomegalovirová infekce"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1914","display":"Vitamin K antagonist embryofetopathy","definition":"Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Embryofetopatie způsobená terapií orálními antikoagulancii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Vitamin K antagonist embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Warfarin embryofetopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Warfarin embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"di Sala syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kumarinová embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fetální warfarinový syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Embryofetopatie způsobená antagonisty vitaminu K"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1913","display":"Fetal trimethadione syndrome","definition":"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální trimetadionový syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1896","display":"EEC syndrome","definition":"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"EEC syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ektrodaktylii, ektodermální dysplázii a rozštěp rtu/patra"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1897","display":"EEM syndrome","definition":"A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"EEM syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ektodermální dysplázii, ektrodaktylii a makulární dystrofii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1908","display":"Aminopterin/methotrexate embryofetopathy","definition":"A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aminopterinová/metotrexátová embryofetopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aminopterin embryopathy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fetal aminopterin syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom aminopterinové embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fetální aminopterinový syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1909","display":"Indomethacin embryofetopathy","definition":"Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. 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Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Edinburghský syndrom malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Typus Edinburgensis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Typus Edinburgensis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1891","display":"Intellectual disability-spasticity-ectrodactyly syndrome","definition":"Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, spasticitu a ektrodaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jancar syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jancarův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1892","display":"Ectrodactyly-polydactyly syndrome","definition":"Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující ektrodaktylii a polydaktylii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1816","display":"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome","definition":"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ektodermální dysplázie, berlínský typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Berlin syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ectodermal dysplasia, Berlin type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující leukomelanoderma, mentální retardaci a hypotrichózu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1807","display":"Focal facial dermal dysplasia type III","definition":"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fokální faciální dermální dysplázie, typ III"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FFDD type III"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FFDD3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Focal facial dermal dysplasia 3, Setleis type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Setleis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FFDD typ III"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FFDD3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fokální faciální dermální dysplázie 3, Setleisův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Setleisův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"398166"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"1818","display":"Ectodermal dysplasia, trichoodontoonychial type","definition":"Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. 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Thoracic scoliosis can also be present. 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Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypohidrotickou ektodermální dysplázii, hypotyreózu a ciliární dyskinezi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ANOTHER syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HEDH syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ANOTHER syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1875","display":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","definition":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou svalovou dystrofii, infantilní katarakta a hypogonadismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bassoe syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bassoeův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1873","display":"Jalili syndrome","definition":"Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jaliliho syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cone rod dystrophy-amelogenesis imperfecta syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující dystrofii čípků a tyčinek a amelogenesis imperfecta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1879","display":"Melorheostosis with osteopoikilosis","definition":"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Melorheostóza s osteopoikilózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSBD syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mixed sclerosing bone dystrophy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSBD syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Smíšená sklerozující kostní dystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1867","display":"Hereditary bullous dystrophy, macular type","definition":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bulózní dystrofie, makulární typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1872","display":"Cone rod dystrophy","definition":"A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dystrofie čípků a tyčinek"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1871","display":"Progressive cone dystrophy","definition":"A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní dystrofie čípků"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cone dystrophy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dystrofie čípků"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1860","display":"Thanatophoric dysplasia type 1","definition":"A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Thanatoforická dysplázie, typ I"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TD1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thanatophoric dwarfism type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TDI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tanatoforický dwarfismus, typ I"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2655"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"1861","display":"Thoracic dysplasia-hydrocephalus syndrome","definition":"A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. 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Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. 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Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom ulnární metafyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rosenberg-Lohr syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rosenbergův-Lohrův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rosenberg-Lohrův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1836","display":"Mesomelic dysplasia, Kantaputra type","definition":"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mesomelická dysplázie, Kantaputrův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kantaputra mesomelic dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDK"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mesomelic dysplasia, Thai type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kantaputrova mesomelická dysplázie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MDK"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mesomelická dysplázie, thajský typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1834","display":"Axial mesodermal dysplasia spectrum","definition":"Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spektrum mezodermální axiální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Blastogenesis 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progressive, proteinuric steroid-resistant nephropathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Schimkeho imunooseální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Schimke syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepiphyseal dysplasia-nephrotic syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Schimkeho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující spondyloepifyzární dysplázii a nefrotický syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1825","display":"Epiphyseal dysplasia-hearing loss-dysmorphism syndrome","definition":"Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující epifyzární dysplázii, ztrátu sluchu a dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epiphyseal dysplasia-deafness-dysmorphism syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Finucane-Kurtz-Scott syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Finucanův-Kurtzův-Scottův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Finucane-Kurtz-Scottův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251","display":"Multiple epiphyseal dysplasia","definition":"A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mnohočetná epifyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EDM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MED"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Polyepiphyseal dysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Polyepifyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"1823","display":"OBSOLETE: Localized epiphyseal dysplasia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Lokalizovaná epifyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"364526"}]},{"code":"1811","display":"Odontomicronychial dysplasia","definition":"A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Odontomikronychiální dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1812","display":"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome","definition":"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující ektodermální dysplázii, mentální retardaci a malformaci centrálního nervového systému"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1808","display":"Hidrotic ectodermal dysplasia, Christianson-Fourie type","definition":"Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hidrotická ektodermální dysplázie, typ Christiansona-Fourieho"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Christianson-Fourie syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Christiansonův-Fourieho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hidrotická ektodermální dysplázie, typ Christianson-Fourieho"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Christianson-Fourieho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1809","display":"Hidrotic ectodermal dysplasia, Halal type","definition":"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. 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No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. 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Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. 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A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. 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The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. 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There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"GMS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Goniodysgenesis-intellectual disability-short stature syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující goniodysgenezi, mentální retardaci a nízký vzrůst"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2091","display":"Multinodular goiter-cystic kidney-polydactyly syndrome","definition":"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující multinodulární strumu, cystickou ledvinu a polydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Daneman-Davy-Mancer syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thyroid-renal-digital anomalies"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tyreorenodigitální anomálie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Danemanův-Davyho-Mancerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Daneman-Davy-Mancerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"157991","display":"Generalized eruptive histiocytosis","definition":"A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. 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Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Papulární xantom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"376","display":"Gordon syndrome","definition":"Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gordonův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Camptodactyly-cleft palate-clubfoot syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal arthrogryposis type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal arthrogryposis type IIA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální artrogrypóza, typ 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální artrogryóza, typ IIA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kamptodaktylii, rozštěp rtu a pes equinovarus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158003","display":"Xanthoma disseminatum","definition":"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Diseminovaný xantom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Montgomery syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Montgomeryho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2092","display":"Focal dermal hypoplasia","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fokální dermální hypoplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Goltz syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Goltz-Gorlin syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Goltzův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Goltzův-Gorlinův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Goltz-Gorlinův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158000","display":"Juvenile xanthogranuloma","definition":"Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Juvenilní xantogranulom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JXG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2098","display":"Acromesomelic dysplasia, Grebe type","definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akromesomelická dysplázie typu Grebe"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chondrodysplasia, Grebe type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chondrodysplázie typu Grebe"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158025","display":"Hereditary progressive mucinous histiocytosis","definition":"Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární progresivní mucinózní histiocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158022","display":"Progressive nodular histiocytosis","definition":"Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní nodulární histiocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"380","display":"Greig cephalopolysyndactyly syndrome","definition":"A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Greigův syndrom cefalopolysyndaktylie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GCPS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"GCPS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. 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and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Okuloaurikulární syndrom, Schorderetův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). 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Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. 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Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. 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It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. 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It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endomyokardiální fibroelastóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Endomyocardial fibroelastosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2824","display":"Paraplegia-intellectual disability-hyperkeratosis syndrome","definition":"A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující paraplegii, mentální retardaci a hyperkeratózu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fitzsimmons-McLachlan-Gilbert syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fitzsimmonsův-McLachlanův-Gilbertův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fitzsimmons-McLachlan-Gilbertův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2045","display":"FLOTCH syndrome","definition":"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. 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Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hepatickou fibrózu, renální cysty a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thompson-Baraitser syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Thompsonův-Baraitserův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Thompson-Baraitserův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2029","display":"Multiple non-ossifying fibromatosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mnohočetná neosifikující fibromatóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jaffe-Campanacci syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jaffeho-Campanacciho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jaffe-Campanacciho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2029"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"636"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"636"}]},{"code":"2042","display":"OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující tracheoezofageální píštěl a hypospadii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2042"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1199"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"1199"}]},{"code":"2036","display":"Scalp-ear-nipple syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom skalp-ucho-bradavka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Finlay-Marks syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Finlayův-Marksův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Finlay-Marksův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158769","display":"Plaque-form urticaria pigmentosa","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plakovitá urticaria pigmentosa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"79457"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2006","display":"Median cleft lip/mandible","definition":"A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mediánní rozštěp rtu/mandibuly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Median cleft lower facial stage"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Median cleft of the lower lip and mandible"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Median mandibular cleft"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mediánní rozštěp dolní obličejové etáže"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158766","display":"Typical urticaria pigmentosa","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Typická urticaria pigmentosa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"79457"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2007","display":"Alar cartilages hypoplasia-coloboma-telecanthus syndrome","definition":"A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypoplázii alárních chrupavek, kolobom a telekantus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2003","display":"Cleft lip/palate-deafness-sacral lipoma syndrome","definition":"Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující rozštěp rtu/patra, hluchotu a sakrální lipom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cleft lip/palate-hearing loss-sacral lipoma syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lowry-Yong syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lowryho-Yongův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lowry-Yongův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158687","display":"Lethal acantholytic erosive disorder","definition":"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Letální akantolytická epidermolysis bullosa"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LAEB"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158684","display":"Epidermolysis bullosa simplex with pyloric atresia","definition":"A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Prostá bulózní epidermolýza s atrezií pyloru"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBS with pyloric atresia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBS-PA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EBS-PA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2004","display":"Laryngotracheoesophageal cleft","definition":"A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Laryngotracheoezofageální rozštěp"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LTEC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Laryngo-tracheo-esophageal cleft"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Laryngo-tracheo-esophageal diastema"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LTEC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Laryngotracheoezofageální diastéma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158681","display":"Epidermolysis bullosa simplex with circinate migratory erythema","definition":"A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Prostá bulózní epidermolýza s circinárním migrujícím erytémem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBS with circinate migratory erythema"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBS-migr"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EBS-migr"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2001","display":"Cleft lip/palate-intestinal malrotation-cardiopathy syndrome","definition":"A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující rozštěp rtu/patra, intestinální malrotaci a kardiopatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"McPherson-Clemens syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"McPhersonův-Clemensův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"McPherson-Clemensův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"158676","display":"Localized dystrophic epidermolysis bullosa, nails only","definition":"A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. 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Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. 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Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. 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Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom ze sběrných kanálků"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BDC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bellini carcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bellini duct carcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BCD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Belliniho karcinom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Karcinom ze sběrných Belliniho kanálků"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2484","display":"Melnick-Needles syndrome","definition":"Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Melnickův-Needlesův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Melnick-Needles osteodysplasty"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Melnickova-Needlesova osteodysplázie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Melnick-Needlesův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Melnick-Needlesova osteodysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"247198","display":"Progressive cerebello-cerebral atrophy","definition":"A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní cerebelo-cerebrální atrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCCA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PCCA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2481","display":"Neurocutaneous melanocytosis","definition":"Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neurokutánní melanocytóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neurocutaneous melanosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NCM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neurokutánní melanóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"247165","display":"Infantile mercury poisoning","definition":"Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infantilní otrava rtutí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Erythroedema polyneuritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Feer disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile acrodynia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile mercury intoxication"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pink disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Swift disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Swift-Feer disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Erythroedema polyneuropathia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Feerova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infantilní akrodynie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infantilní intoxikace rtutí"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Swiftova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Swiftova-Feerova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Růžová nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Swift-Feerova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247165"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2482","display":"Melhem-Fahl syndrome","definition":"A rare dysostosis characterized by the presence of fifteen dorsal vertebrae and rib pairs with a normal complement of lumbar vertebrae. Patients may also present with Hirschsprung's disease, membraneous imperforate anus with perineal fistula, cryptorchidism, high-arched palate, simian crease and absent nails. There have been no further descriptions in the literature since 1985.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Melhemův-Fahlův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Melhem-Fahlův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2477","display":"Isolated megalencephaly","definition":"A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Megalencefalie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Makrocefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2479","display":"Megalocornea-intellectual disability syndrome","definition":"Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující megalokorneu a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMR syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuhäuser syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MMR syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neuhäuserův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2475","display":"White forelock with malformations","definition":"White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bílý pramen vlasů nad čelem s malformacemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2476","display":"Dysraphism-cleft lip/palate-limb reduction defects syndrome","definition":"A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Medeirové-Dennisův-Donnaiové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Medeira-Dennis-Donnai syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující dysrafismus, rozštěp rtu/patra a redukční defekty končetin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Medeira-Dennis-Donnaiové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2474","display":"OBSOLETE: McLain-Dekaban syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: McLain-Dekabanův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Intellectual disability-coloboma-slimness syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2474"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"102283"}]},{"code":"2473","display":"McKusick-Kaufman syndrome","definition":"A rare genetic syndrome with multiple congenital anomalies characterized by urogenital malformations, mainly hydrometrocolpos (HMC) in females, postaxial polydactyly (PAP) and congenital heart disease (CHD). The disorder is allelic with Bardet-Biedl syndrome&nbsp;6 (BBS6).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"McKusickův-Kaufmanův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydrometrocolpos-postaxial polydactyly syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kaufman-Mckusick syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hydrometrokolpos a postaxiální polydaktylii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MKKS syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kaufmanův-McKusickův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"McKusick-Kaufmanův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kaufman-McKusickův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2471","display":"McDonough syndrome","definition":"McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. 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brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozková gliomatóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2150","display":"Hirschsprung disease-type D brachydactyly syndrome","definition":"Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující Hirschsprungovu chorobu a brachydaktylii typu D"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2152","display":"Mowat-Wilson syndrome","definition":"A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mowatův-Wilsonové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hirschsprung disease-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující Hirschsprungovu chorobu a mentální retardaci"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mowat-Wilsonové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251579","display":"Giant cell glioblastoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Obrovskobuněčný glioblastom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"360"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2153","display":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","definition":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hirschsprungova choroba, hypoplázie nehtů a dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Al Gazali-Donnai-Muller syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Al Gazaliové-Donnaiové-Muellerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Al Gazali-Donnai-Muellerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251592","display":"Low-grade astrocytoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Low-grade astrocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251592"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"251589","display":"Astrocytoma grade 3","definition":"A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anaplastický astrocytom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anaplastic astrocytoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251598","display":"Protoplasmic astrocytoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Protoplazmatický astrocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"251595"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2155","display":"Hirschsprung disease-deafness-polydactyly syndrome","definition":"Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující Hirschsprungovu chorobu, hluchotu a polydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hirschsprung disease-hearing loss-polydactyly syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Santos-Mateus-Leal syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Santosův-Mateusův-Lealův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Santos-Mateus-Lealův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251595","display":"Astrocytoma grade 2","definition":"A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Difuzní astrocytom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diffuse astrocytoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2156","display":"OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující hirsutismus, kosterní dysplázii a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Wiedemannův-Oldigsův-Oppermannův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Wiedemann-Oldigs-Oppermannův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2156"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"102369"}]},{"code":"251604","display":"Gemistocytic astrocytoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gemistocytární astrocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"251595"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"251601","display":"Fibrillary astrocytoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibrilární astrocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"251595"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2158","display":"Histidinuria-renal tubular defect syndrome","definition":"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující histidinurii a renální tubulární poškození"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251612","display":"Pilocytic astrocytoma","definition":"A rare astrocytoma characterized by bipolar hair-like projections extending from the neoplastic astrocytes, myxoid areas, eosinophilic granular bodies, and Rosenthal fibers. This WHO grade 1 tumor is most often located in the cerebellum in children, or in the hypothalamus, brain stem, optic chiasma, and brain hemispheres in adults. Depending on the primary location and the growth rate of the tumor, patients may present with signs of increased intracranial pressure or focal neurological signs such as decreased visual acuity, ataxia, and/or nystagmus, among other symptoms. Molecularly, it exhibits alterations in genes of the MAPK signaling pathway, most commonly <i>KIAA1549::BRAF</i> fusion.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pilocytární astrocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2163","display":"Holoprosencephaly-craniosynostosis syndrome","definition":"A rare syndromic craniosynostosis characterized by primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Additional clinical features may include craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay. There have been no further descriptions in the literature since 1993.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující holoprosencefalii a kraniosynostózu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Camero-Lituania-Cohen syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Genoa syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Janovský syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Camerův-Lituaniův-Cohenův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Camer-Lituania-Cohenův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251607","display":"Pleomorphic xanthoastrocytoma","definition":"A rare astrocytoma characterized by GFAP-expressing cells with nuclear/cytoplasmic pleomorphism, xanthomatous changes, and eosinophilic granular bodies surrounded by a reticulin network. Pleomorphic xanthoastrocytoma (PXA) most often has cerebral hemispheres location with meningeal involvement, mainly affects younger individuals and is frequently characterized by early seizure manifestation. Extent of resection and mitotic index are important prognostic factors. PXA commonly exhibits MAPK signaling pathway genes mutations (most frequently <i>BRAFV600E</i>), often combined with <i>CDKN2A/B</i> homozygous deletion, and a specific DNA methylation profile. The tumor corresponds to WHO grade 2 or grade 3, mainly depending on the mitotic index and Ki-67 expression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pleomorfní xanthoastrocytom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PXA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PXA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251618","display":"Subependymal giant cell astrocytoma","definition":"A rare astrocytoma characterized by a benign, slowly growing lesion that typically arises in the walls of the lateral ventricles, and most commonly occurs in patients <&nbsp;20 years with tuberous sclerosis complex. Most patients present with worsening epilepsy or symptoms of increased intracranial pressure. This WHO grade 1 tumor is composed of astrocytes with various phenotypes (i.e. polygonal, gemistocytic, spindle, and ganglionic-like). On immunohistochemistry, it is usually positive for GFAP, S100, beta-tubulin, neurofilament, synaptophysin, NeuN, TTF1, and phosphorylated S6 but shows weak or negative staining for tuberin, hamartin, and Ki-67. It has its specific DNA methylation profile.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Subependymální velkobuněčný astrocytom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEGA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SEGA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251618"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2165","display":"Holoprosencephaly-caudal dysgenesis syndrome","definition":"Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující holoprosencefalii a kaudální dysgenezi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251615","display":"Pilomyxoid astrocytoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pilomyxoidní astrocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"251612"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2166","display":"Holoprosencephaly-postaxial polydactyly syndrome","definition":"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující holoprosencefalii a postaxiální polydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pseudo-trisomy 13 syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudotrizomie chromozomu 13"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251627","display":"Oligodendroglioma grade 2","definition":"A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Oligodendrogliom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oligodendroglioma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2167","display":"Holzgreve syndrome","definition":"Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Holzgreveův-Wagnerův-Rehderův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Holzgreve-Wagner-Rehder syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Holzgreve-Wagner-Rehderův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251623","display":"Pituicytoma","definition":"A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pituicytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2169","display":"Methylcobalamin deficiency type cblE","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit methylkobalaminu, typ cbIE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Functional methionine synthase deficiency type cblE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit methioninsyntázy reduktázy, typ cblE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"622"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"251927","display":"Extraventricular neurocytoma","definition":"Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Extraventrikulární neurocytom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EVN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251927"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251931","display":"Cerebellar liponeurocytoma","definition":"Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Liponeurocytom mozečku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2222","display":"Hypertrichosis lanuginosa congenita","definition":"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená lanuginózní hypertrichóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypertrichosis universalis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypertrichosis universalis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251919","display":"Pineal parenchymal tumor of intermediate differentiation","definition":"A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pineální parenchymatózní nádor středního stupně diferenciace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251919"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2220","display":"Hypertrichosis cubiti","definition":"Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypetrichosis cubiti"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hairy elbows syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MacDermot-Patton-Williams syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hypertrichosis cubiti a nízký vzrůst"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom chlupatých předloktí"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MacDermotův-Pattonův-Williamsův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MacDermot-Patton-Williamsův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251924","display":"Neuronal tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251924"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"1051","display":"Ramos-Arroyo syndrome","definition":"Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ramos-Arroyové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Corneal anesthesia-deafness-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Corneal anesthesia-hearing loss-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující korneální anestezii, hluchotu a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251940","display":"Desmoplastic infantile astrocytoma/ganglioglioma","definition":"Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Desmoplastický astrocytom/gangliogliom dětského věku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DIA/DIG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DIA/DIG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251946","display":"Dysembryoplastic neuroepithelial tumor","definition":"A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysembryoplastický neuroepiteliální 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Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gangliocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2224","display":"Hypertryptophanemia","definition":"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypertryptofanemie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2232","display":"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","definition":"A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující primární hypergonadotropní hypogonadismus a částečnou alopecii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Al Awadi-Farag-Teebi syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Al Awadiové-Faragův-Teebiho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Al Awadi-Farag-Teebiho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251962","display":"Papillary glioneuronal tumor","definition":"A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Papilární glioneurální tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PGNT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pseudopapillary ganglioglioneurocytoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pseudopapillary neurocytoma with glial differentiation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PGNT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudopapilární ganglioglioneurocytom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudopapilární neurocytom s gliální diferenciací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251962"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251975","display":"Rosette-forming glioneuronal tumor","definition":"Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rosetovitý glioneurální nádor čtvrté komory"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RGNT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RGNT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DNET mozečku"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dysembryoplastický neuroepiteliální tumor mozečku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251975"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251949","display":"Ganglioglioma","definition":"Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gangliogliom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251949"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2230","display":"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","definition":"A rare endocrine disease characterized by congenital hypogonadotropic hypogonadism and frontoparietal alopecia. Affected males also exhibit an absence of facial, axillary and pubic hair. Affected females present with more severe alopecia evident from early childhood, primary amenorrhea, absence of axillary and pubic hair, and lack of breast development. Except for failure of sexual development, all affected individuals had normal physical and intellectual development. There have been no further descriptions in the literature since 1979.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypogonadotropní hypogonadismus a frontoparietální alopecii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Salti-Salem syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Saltiho-Salemův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Salti-Salemův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251957","display":"Anaplastic ganglioglioma","definition":"A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anaplastický gangliogliom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251957"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2229","display":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","definition":"A rare developmental defect during embryogenesis characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism. Additional features, which vary between patients, may include facial dysmorphism (including prominent nasal bone, beaked nose, micrognathia and ptosis), intellectual disability, progeroid appearance, skeletal abnormalities (such as scoliosis or osteoporosis), collagenoma, and metabolic abnormalities including lipodystrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující dilatovanou kardiomyopatii a hypergonadotropní hypogonadismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cardiogenital syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Malouf syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Najjar 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Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. 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There have been no further descriptions in the literature since 1969.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vertebrální ankylozující hyperostóza s tylózou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2201","display":"Palmoplantar keratoderma-spastic paralysis syndrome","definition":"A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující palmoplantární keratoderma a spastickou paralýzu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Palmoplantar hyperkeratosis-spastic paralysis syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Powell-Venencie-Gordon syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující palmoplantární hyperkeratózu a spastickou paralýzu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Powellův-Venencieův-Gordonův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Powell-Venencie-Gordonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251877","display":"Ganglioneuroblastoma","definition":"Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome, depending on the location of the tumor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ganglioneuroblastom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2202","display":"Palmoplantar keratoderma-deafness syndrome","definition":"Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. 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It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atypický papilom choroidálního plexu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Atypical CPP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Atypical choroid plexus 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increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom choroidálního plexu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2213","display":"Hypertelorism-microtia-facial clefting 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upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pineocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2218","display":"Cervical hypertrichosis-peripheral neuropathy syndrome","definition":"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). 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As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pineoblastom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2215","display":"Multiple pterygium-malignant hyperthermia syndrome","definition":"An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. 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Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující deformity palce, alopecii a anomálii pigmentace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sparse hair-short stature-skin anomalies syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"250908","display":"Rare neoplastic disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná neoplastická nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare tumoral disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vzácná nemoc s nádory"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250908"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2252","display":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","definition":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahnující radiální hypoplázii, trifalangeální palce, hypospadii a maxilární diastema"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Schmitt-Gillenwater-Kelly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Schmittův-Gillenwaterův-Kellyho syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Schmitt-Gillenwater-Kellyho syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"250972","display":"Polymicrogyria with optic nerve hypoplasia","definition":"Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polymikrogyrie s hypoplázií zrakového nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2255","display":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","definition":"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypoplázii pankreatu, diabetes a vrozenou vadu srdce"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PACHD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic agenesis and congenital heart defects syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Yorifuji-Okuno 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peripheral neuropathy","definition":"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní atrofie optiku a periferní 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In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující dědičnou perzistenci fetálního hemoglobinu a srpkovitou anémii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HPFH-sickle cell disease syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující HPFH a srpkovitou anémii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2306","display":"Isotretinoin-like syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including small, malformed or missing ears, micrognathia, and cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies including hydrocephalus and posterior fossa abnormalities. Clinical features overlap with isotretinoin syndrome/isotretinoin embryopathy, occurs following maternal treatment with isotretinoin, however these patients have no prenatal history of exposure to isotretinoin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom podobný izotretinoinovému syndromu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kawashima syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Microtia-aortic arch syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kawashimové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mikrocii a aortální oblouk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251383","display":"CK syndrome","definition":"CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CK syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii, kortikální malformaci a astenický habitus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2305","display":"Isotretinoin syndrome","definition":"A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izotretinoinový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isotretinoin embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinoic acid embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinoids embryopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izotretinoinová embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Embryopatie z kyseliny retinové"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Retinoidní embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"251370","display":"Sickle cell S-D Punjab disease","definition":"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom srpkovité anémie a onemocnění hemoglobinu D"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HbSD disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hemoglobin S-D Punjab disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sickle cell-hemoglobin D disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HbSD onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"700085"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"251375","display":"Sickle cell S-E disease","definition":"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom srpkovité anémie a onemocnění hemoglobinu E"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HbSE disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hemoglobin S-E disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sickle cell-hemoglobin E disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HbSE onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"700085"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"251359","display":"Sickle cell-beta-thalassemia disease","definition":"A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. 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Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. 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Absence of the cerebellar granular layer has been reported. 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Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. 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Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. 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Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a <i>forme frusta</i> with prominent pachydermia and minimal-to-absent skeletal changes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pachydermoperiostosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PDP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Touraine-Solente-Gole syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PDP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Touraineův-Solenteho-Goleův 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Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. 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It has been described in several members spanning four generations of a French-Canadian family. 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The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. 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The majority of patients present with impaired ambulation, global developmental delay, with or without intellectual disability. Other signs might include hypotonia, truncal, appendicular and gait ataxia, as well as oculomotor abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Isolated global cerebellar hypoplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated generalized cerebellar hypoplasia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727803"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"261801","display":"Partial deletion of chromosome 8 syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Parciální delece chromozomu 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial monosomy of chromosome 8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální monozomie chromozomu 8"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2521","display":"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome","definition":"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii a rozštěp patra"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Halalův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"727820","display":"Brainstem disconnection syndrome","definition":"A rare syndrome with a brainstem malformation as a major feature characterized by the complete absence, or the complete or functional disconnection of the brainstem segments (midbrain, pons and medulla). Patients present with hypotonia, absence of eye contact, signs of impaired thermoregulation, paralysis of some cranial nerves and variable brain anomalies, mostly global cerebellar hypoplasia. Some patients manifest extracerebral anomalies like facial dysmorphism and heart defects. The prognosis is very poor and in case of survival, the patients suffer from severe disability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brainstem disconnection syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727820"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"261806","display":"Partial deletion of chromosome 9 syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Parciální delece chromozomu 9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial monosomy of chromosome 9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální monozomie chromozomu 9"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"261791","display":"Partial deletion of chromosome 6 syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Parciální delece chromozomu 6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial monosomy of chromosome 6"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální monozomie chromozomu 6"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2518","display":"Autosomal recessive chorioretinopathy-microcephaly syndrome","definition":"A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující autozomálně recesivní chorioretinopatii a mikrocefalii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom 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Patients may present a variable phenotype ranging from normal neurodevelopment to profound developmental delay, as well as variable neurologic manifestations such as hypotonia, strabismus, nystagmus, absent eye contact and hyperkinetic movements. 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In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. 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The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující fibulární aplázii a komplexní brachydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Du Pan syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Du Panův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"261519","display":"Maternal uniparental disomy of chromosome X syndrome","definition":"A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. 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Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. 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progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. 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Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ramonův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cherubism-gingival fibromatosis-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující cherubismus, fibromatózu dásní a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263463","display":"CHST3-related skeletal dysplasia","definition":"CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CHST3-vázaná skeletální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chondrodysplasia with congenital joint dislocations, CHST3 type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SDCD, CHST3 type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SDCD typ CHST3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní Larsenův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chondrodysplázie s vrozenou dislokací kloubů, typ CHST3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spondyloepifyzární dysplázie s vrozenou dislokací kloubů, typ CHST3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263432","display":"Nevus of Ito","definition":"Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, may occur together with the latter.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Itův névus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nevus fuscocaeruleus acromiodeltoideus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nevus fuscocaeruleus acromiodeltoideus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263425","display":"Nevus of Ota","definition":"Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otův névus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nevus fusculoceruleus ophthalmomaxillaris"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nevus fusculoceruleus ophthalmomaxillaris"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3015","display":"Radio-renal syndrome","definition":"Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Radiorenální syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263440","display":"Neuroacanthocytosis","definition":"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuroakantocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"263435","display":"Congenital smooth muscle hamartoma","definition":"Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený hamartom hladkého svalstva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3016","display":"Absent radius-anogenital anomalies syndrome","definition":"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující chybějící radius a anogenitální anomálie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263410","display":"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","definition":"A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující infantilní spazmy, psychomotorickou retardaci, progresivní atrofii mozku a onemocnění bazálních ganglií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3010","display":"Qazi-Markouizos syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Qaziho-Markouizosův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dysharmonic skeletal maturation-muscular fiber disproportion syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující dysharmonickou maturaci skeletu a disproporci svalových vláken"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Qazi-Markouizosův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263355","display":"OBSOLETE: ATR-X-related syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: ATR-X-vázaný syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263355"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"847"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"847"}]},{"code":"3011","display":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spastickou tetraplegii, retinitis pigmentosa a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující spastickou kvadruplegii, retinitis pigmentosa a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263417","display":"Bartter syndrome with hypocalcemia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bartterův syndrom s hypokalcémií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bartterův syndrom, typ 5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bartterův syndrom, typ V"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263417"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2238"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"moved-to","valueCode":"428"}]},{"code":"769","display":"Rabson-Mendenhall syndrome","definition":"A subtype of <i>INSR</i>-related severe insulin-resistance syndrome characterized by intrauterine and postnatal growth delay, short stature, acanthosis nigricans, dental, hair and nail abnormalities, facial dysmorphism, organomegaly and major hyperinsulinemia with dysglycemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rabsonův-Mendenhallův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rabson-Mendenhallův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263413","display":"Angiosarcoma","definition":"A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Angiosarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3003","display":"Pyknoachondrogenesis","definition":"A rare lethal chondrodysplasia characterized by severe generalized osteosclerosis. Main clinical manifestations include large head, palpebral edema, flat nose, low-set ears, hexagon-like mouth, a short neck (hidden by skin folds), a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism with rather normal-length hands and feet. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere. It has a lethal outcome, either prenatally or during the early neonatal period. There have been no further descriptions in the literature since 1986.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pyknoachondrogeneze"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Camera syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Camerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263335","display":"Moderately-differentiated thymic neuroendocrine carcinoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Středně diferencovaný neuroendokrinní karcinom thymu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"99869"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"263339","display":"Poorly differentiated thymic neuroendocrine carcinoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Málo diferencovaný neuroendokrinní karcinom thymu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"99869"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"3005","display":"Pyle disease","definition":"A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pyleova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Metaphyseal dysplasia, Pyle type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SFRP4-related Pyle disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Metafyzární dysplázie, Pyleův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263347","display":"MRCS syndrome","definition":"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MRCS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mikrokorneu, dystrofii tyčinek a čípků, katarakta a zadní stafylom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263352","display":"Postcardiotomy right ventricular failure","definition":"A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Postkardiotomické selhání pravé komory"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3004","display":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","definition":"A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující zrcadlovou polydaktylii, segmentaci obratlů a defekty končetin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"263310","display":"Thymoma type A","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Thymom, typ A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární epiteliální neoplázie thymu, typ A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární epiteliální nádor thymu, typ A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"99867"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"2997","display":"Ptosis-vocal cord paralysis syndrome","definition":"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. 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restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká X-vázaná mentální retardace, Gustavsonův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Gustavson syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"262206","display":"Partial duplication of chromosome 4 syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Parciální duplikace chromozomu 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial trisomy of chromosome 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální trizomie chromozomu 4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"3077","display":"X-linked intellectual disability-psychosis-macroorchidism syndrome","definition":"An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, psychózu a makroorchidismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lindsay-Burn syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPM-X"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPM-X"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lindsayové-Burnův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lindsay-Burnův 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retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mentální retardace, typ Buenos-Aires"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mutchinick syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mutchinickův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"262110","display":"Partial deletion of the long arm of chromosome 14 syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Parciální delece dlouhého raménka chromozomu 14"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial deletion of chromosome 14q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial monosomy of chromosome 14q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial monosomy of the long arm of chromosome 14"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální delece 14q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální monozomie 14q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální monozomie dlouhého raménka chromozomu 14"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"3064","display":"OBSOLETE: X-linked intellectual disability, Wittner type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: X-vázaná mentální retardace, Wittnerův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3064"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"102369"}]},{"code":"3063","display":"X-linked intellectual disability, Snyder type","definition":"X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Snyderův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Snyder-Robinson syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Snyderův-Robinsonův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Snyder-Robinsonův 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Hair is normal at birth but progressively stops growing long and becomes fragile. 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Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. 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Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. 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Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. 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The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zadní meningokéla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2872","display":"Cardiocranial syndrome, Pfeiffer type","definition":"A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kardiokraniální syndrom, Pfeifferův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Craniosynostosis-congenital heart disease-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pfeiffer-Singer-Zschiesche syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kraniosynostózu, vrozenou srdeční vadu a mentální retardaci"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pfeifferův-Singerův-Zschiescheův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pfeiffer-Singer-Zschiescheův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2867","display":"Short stature, Brussels type","definition":"A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malý vzrůst, bruselský typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mievis-Verellen-Dumoulin syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mievisův-Verellen-Dumoulinové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mievis-Verellen-Dumoulinové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2868","display":"Short stature-valvular heart disease-characteristic facies syndrome","definition":"Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující malý vzrůst, onemocnění srdečních chlopní a charateristickou facies"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2846","display":"Congenital pericardium anomaly","definition":"Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená anomálie perikardu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2842","display":"Penoscrotal transposition","definition":"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Penoskrotální transpozice"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2848","display":"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome","definition":"A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kamptodaktylii, artropatii, coxa vara a perikarditidu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arthropathy-camptodactyly syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CACP syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pericarditis-arthropathy-camptodactyly 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There have been no further descriptions in the literature since 1981.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující divertikly renálních kalichů a hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Renal caliceal diverticuli-hearing loss syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"268322","display":"Hereditary isolated thrombocytopenia with normal platelets size","definition":"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). 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Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). 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Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. 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Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). 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Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Porencefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2896","display":"Pitt-Hopkins syndrome","definition":"A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pittův-Hopkinsův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pitt-Hopkinsův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2899","display":"Brachyolmia-amelogenesis imperfecta syndrome","definition":"An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující brachyolmii a amelogenesis imperfecta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Platyspondyly-amelogenesis imperfecta syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Verloes-Bourguignon syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující platyspondylii a amelogenesis imperfecta"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Verloesův-Bourguignonův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Verloes-Bourguignonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2900","display":"Leri pleonosteosis","definition":"Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. 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Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nestorův-Guillermův progeroidní syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NGPS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NGPS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nestor-Guillermův progeroidní syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3220","display":"Deafness-enamel hypoplasia-nail defects syndrome","definition":"A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hluchotu, hypoplázii skloviny a defekty nehtů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hearing loss-enamel hypoplasia-nail defects syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Heimler syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Heimlerův 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purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Superaktivita fosforibosylpyrofosfátsyntetázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PRPP synthetase superactivity"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PRPS1 superactivity"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Superaktivita PRPP 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congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chondrodysplázie s dislokací kloubů, typ gPAPP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"gPAPP deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit gPAPP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3221","display":"Generalized resistance to thyroid hormone","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná rezistence vůči thyreoidálním hormonům"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Deafness-thyroid hormone resistance syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hearing loss-thyroid hormone resistance syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Refetoff syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hluchotu a rezistenci vůči thyreoidálním hormonům"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Refetoffův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3221"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"566243"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"566243"}]},{"code":"3217","display":"Deafness-small bowel diverticulosis-neuropathy syndrome","definition":"A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hluchotu, divertikulózu tenkého střeva a neuropatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Groll-Hirschowitz syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hearing loss-small bowel diverticulosis-neuropathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Grollův-Hirschowitzův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Groll-Hirschowitzův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"280553","display":"Fatal infantile hypertonic myofibrillar myopathy","definition":"Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fatální infantilní hypertonická myofibrilární myopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"280558","display":"Warsaw breakage syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Varšavský syndrom chromozomální instability"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"WABS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"WABS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3216","display":"Conductive deafness-malformed external ear syndrome","definition":"A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. 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Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární neutrofilie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"279934","display":"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency","definition":"A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom mitochondriální DNA deplece, hepatocerebrální forma způsobená deficitem DGUOK"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3152","display":"Sclerosteosis","definition":"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sklerosteóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cortical hyperostosis-syndactyly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kortikální hyperostózu a syndaktylii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"279928","display":"Paraneoplastic uveitis","definition":"A rare ophthalmic disorder characterized by a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the tumor diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters, and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. 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Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infekční přední uveitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279922"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3164","display":"Omphalocele syndrome, Shprintzen-Goldberg type","definition":"Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom omfalokély, Shprintzenův-Goldbergův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom omfalokély, Shprintzen-Goldbergův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"280142","display":"Combined immunodeficiency due to LCK deficiency","definition":"A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžký kombinovaný imunodeficit způsobený deficitem LCK"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CID due to LCK deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CID due to lymphocyte-specific protein tyrosine kinase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCID způsobený deficitem LCK"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCID způsobený deficitem specifické protein tyrozin-kinázy lymfocytů"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžký kombinovaný imunodeficit způsobený deficitem specifické protein tyrozin-kinázy lymfocytů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3168","display":"Sillence syndrome","definition":"A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. 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Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. 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Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomálie extenzorů šlach prstů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hapnes-Boman-Skeie syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hapnesův-Bomanův-Skeieův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hapnes-Boman-Skeieův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"279888","display":"Acute endophthalmitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní endoftalmitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"199323"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"279891","display":"Chronic endophthalmitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická endoftalmitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"199323"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"279894","display":"Toxic maculopathy due to antimalarial drugs","definition":"Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquine (CQ) or hydroxychloroquine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Toxická makulopatie způsobená antimalariky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3301","display":"Tetraamelia-multiple malformations syndrome","definition":"An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující tetraamelii a mnohočetné malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PAPPA syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PAPPAS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Zimmer phocomelia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Zimmerova fokomelie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"279897","display":"Primary oculocerebral lymphoma","definition":"Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární okulocerebrální lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary oculocerebral non-Hodgkin lymphoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární okulocerebrální non-Hodgkinský lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"279904","display":"OBSOLETE: Primary intraocular lymphoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Primární intraokulární lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: PIOL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Primary intraocular non-Hodgkin lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Primary vitreoretinal large B-cell lymphoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: PIOL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Primární intraokulární non-Hodgkinský lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"695631"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"695631"}]},{"code":"279911","display":"Primary organ-specific lymphoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární orgánově specifický lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"3304","display":"Fallot complex-intellectual disability-growth delay syndrome","definition":"Fallot complex - 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Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. 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It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia. On examination, snow banking, vitreous snowballs, peripheral retinal vascular sheathing, vitreous cells, and vitreous haze can be seen. Complications include epiretinal membrane formation, cataract formation, cystoid macular edema, or band keratopathy, among others. 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Azoospermia is a typical feature in affected males.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 32"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebellar ataxia with azoospermia and intellectual disability"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA32"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cerebelární ataxie s azoospermií a mentální retardací"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA32"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3224","display":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","definition":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. 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It has been described in three sibs and their mother. Inheritance is autosomal dominant.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hluchotu, malformace ucha a obrnu obličeje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hearing loss-ear malformation-facial palsy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sellars-Beighton syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sellarsův-Beightonův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sellars-Beightonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"276255","display":"OBSOLETE: Xeroderma pigmentosum complementation group C","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Xeroderma pigmentosum, typ C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: XPC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: XPC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Xeroderma pigmentosum, komplementační skupina C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276255"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"910"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"910"}]},{"code":"3233","display":"Cochleosaccular degeneration-cataract syndrome","definition":"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. 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An autosomal recessive inheritance with variable expressivity was suspected. 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Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. 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Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pemphigus herpetiformis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208524"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1485","display":"Arthrogryposis-hyperkeratosis syndrome, lethal form","definition":"A rare arthrogryposis multiplex congenita characterized by contractures (of the large joints, fingers and toes) and hyperkeratosis. Patients present with prematurity and decreased or absent sensory response. Severe hypoplasia of the dorsal roots and posterior columns has been reported. It is a lethal condition that occurs in early infancy. There have been no further descriptions in the literature since 1993.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující artrogrypózu a hyperkeratózu, letální forma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Johnston-Aarons-Schelley syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Johnstonové-Aaronsův-Schelleyové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Johnston-Aarons-Schelleyové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"208508","display":"Autosomal dominant cerebellar ataxia type II","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní cerebelární ataxie, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADCA2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADCAII"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant cerebellar ataxia type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADCA2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADCAII"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní cerebelární ataxie, typ II"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"3051","display":"Nicolaides-Baraitser syndrome","definition":"A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, řídké vlasy a brachydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual disability-sparse hair-brachydactyly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nicolaidesův-Baraitserův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nicolaides-Baraitserův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"208447","display":"Bilateral generalized polymicrogyria","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná bilaterální polymikrogyrie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"268940"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"208444","display":"Bilateral frontal polymicrogyria","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bilaterální přední polymikrogyrie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"268940"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"208441","display":"Bilateral parasagittal parieto-occipital polymicrogyria","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bilaterální parasagitální parietookcipitální polymikrogyrie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"268940"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"1134","display":"Isolated arrhinia","definition":"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Arrhinie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated nose agenesis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ageneze nosu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1664","display":"OBSOLETE: Embryonary disorganization syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Embryonální disorganizační syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1664"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"459787"}]},{"code":"1768","display":"Familial caudal dysgenesis","definition":"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární kaudální dysgeneze"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rudd-Klimek syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ruddův-Klimekův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rudd-Klimekův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"207122","display":"Qualitative or quantitative defects of fukutin","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kvalitativní nebo kvantitativní defekty fukutinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207122"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2204","display":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","definition":"A form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysplastická kortikální hyperostóza, typ Kozlowski-Tsuruta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kozlowski-Tsuruta syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kozlowského-Tsurutův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kozlowski-Tsurutův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"646139"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"207119","display":"Qualitative or quantitative defects of FKRP","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kvalitativní nebo kvantitativní defekty FKRP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207119"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"207113","display":"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kvalitativní nebo kvantitativní defekty proteinu zapojeného v O-glykosylaci alfa-dystroglykanu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary alpha-dystroglycanopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary dystroglycanopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární alfa-dystroglykanopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární dystroglykanopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207113"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2963","display":"Progeroid syndrome, Petty type","definition":"Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progeroidní syndrom, typ Pettyové"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Petty syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Petty-Laxova-Wiedemann syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pettyové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pettyové-Laxové-Wiedemannův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Petty-Laxova-Wiedemannův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"697101"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"207110","display":"Qualitative or quantitative defects of myotubularin","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kvalitativní nebo kvantitativní defekty myotubularinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207110"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"207107","display":"Qualitative or quantitative defects of TRIM32","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kvalitativní nebo kvantitativní defekty TRIM32"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207107"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"2619","display":"Brachydactylous dwarfism, Mseleni type","definition":"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. 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Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. 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Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. 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It has been described in two patients (a mother and her son). 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Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená letální myopatie, typ Comptonové-Northové"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená letální myopatie, typ Compton-Northové"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3240","display":"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome","definition":"A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. 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Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. 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The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). 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The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Toxokaróza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3343"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"211062","display":"Hereditary episodic ataxia","definition":"A group of rare hereditary ataxia characterized by recurrent episodes of ataxia and vertigo which may be progressive. 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mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit bifunkčních enzymů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213531","display":"Metaplastic carcinoma of the breast","definition":"Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Metaplastický karcinom prsu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213528","display":"Rare adenocarcinoma of the breast","definition":"A rare malignant breast tumor disease encompassing special rare types of adenocarcinoma of the breast, i.e. tubular adenocarcinoma, mucinous carcinoma, medullary carcinoma NOS, papillary adenocarcinoma NOS, cribriform carcinoma, apocrine adenocarcinoma, secretory carcinoma, glycogen-rich clear cell carcinoma, lipid-rich carcinoma, and oncocytic carcinoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácný adenokarcinom prsu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3188","display":"Congenital pulmonary veins atresia or stenosis","definition":"A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená atrézie nebo stenóza plicních žil"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"213605","display":"Carcinofibroma of the corpus uteri","definition":"Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinofibrom těla děložního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213605"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213610","display":"Carcinosarcoma of the corpus uteri","definition":"Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zhoubný smíšený mülleriánský nádor těla děložního"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Malignant mixed Müllerian tumor of the corpus uteri"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mixed Müllerian cancer of corpus uteri"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Uterine carcinosarcoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Smíšená mülleriánská rakovina těla děložního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213610"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3161","display":"Congenital pulmonary sequestration","definition":"Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená plicní sekvestrace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital bronchopulmonary sequestration"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená bronchopulmonální sekvestrace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213589","display":"Malignant mixed epithelial and mesenchymal tumor of corpus uteri","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zhoubný smíšený epiteliální a mezenchymální nádor těla děložního"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mixed epithelial and mesenchymal cancer of corpus uteri"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Smíšená epiteliální a mezenchymální rakovina těla děložního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213589"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"213600","display":"Adenosarcoma of the corpus uteri","definition":"A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenosarkom těla děložního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213600"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"860","display":"Congenitally uncorrected transposition of the great arteries","definition":"A rare congenital cardiac malformation characterized by a connection of the morphologically right ventricle to the aorta, and of the morphologically left ventricle to the pulmonary trunk (atrioventricular concordance and ventriculoarterial VA discordance).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená nekorigovaná transpozice velkých tepen"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Discordant ventriculoarterial connections"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transposition of the great vessels"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaná ventrikuloarteriální diskordance"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ventrikuloarteriální diskordance s atrioventrikulární konkordancí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213625","display":"Leiomyosarcoma of the corpus uteri","definition":"Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. 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Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. 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It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rhabdomyosarkom těla děložního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213615"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213620","display":"Sarcoma of the corpus uteri","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sarkom těla děložního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213620"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"3189","display":"Congenital pulmonary valvar stenosis","definition":"A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená stenóza pulmonální chlopně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital stenosis of pulmonary valve"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213721","display":"Undifferentiated carcinoma of the corpus uteri","definition":"Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nediferencovaný karcinom těla děložního"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Endometrial undifferentiated carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Endometriální nediferencovaný karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213721"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1464","display":"Univentricular heart","definition":"A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jednokomorové srdce"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Double inlet atrioventricular connection"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dvojvtoková levá komora"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213726","display":"Serous carcinoma of the corpus uteri","definition":"A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. 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It is often associated with cervical stenosis and pyometra.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom corpus uteri"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Endometrial squamous cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Endometriální dlaždicobuněčný 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Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. 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It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. 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Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. 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The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leiomyosarkom hrdla děložního"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cervical leiomyosarcoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cervikální leiomyosarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213802","display":"Rhabdomyosarcoma of the cervix uteri","definition":"Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rhabdomyosarkom hrdla děložního"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cervical rhabdomyosarcoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cervikální rhabdomyosarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2953","display":"Musculocontractural Ehlers-Danlos syndrome","definition":"A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ehlersův-Danlosův syndrom, typ se svalovými kontrakturami"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adducted thumb-clubfoot syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal arthrogryposis with peculiar facies and hydronephrosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dündar syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ehlers-Danlos syndrome, Kosho 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It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. 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Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenoidně bazální karcinom hrdla děložního"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cervical adenoid basal carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cervikální adenoidně bazální karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213828"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213823","display":"Adenoid cystic carcinoma of the cervix uteri","definition":"A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenoidně cystický karcinom děložního čípku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cervical adenoid cystic carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cervikální adenoidně cystický karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3082","display":"Intellectual disability-polydactyly-uncombable hair syndrome","definition":"Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). 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Patients with ARS may also present with multiple variable congenital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Axenfeldův-Riegerův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Axenfeld syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rieger syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Axenfeldův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Riegerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Axenfeld-Riegerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"3269","display":"Isolated radio-ulnar synostosis","definition":"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Synostosis radioulnaris congenita"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital radioulnar fusion"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Radioulnární fúze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"213837","display":"Malignant germ cell tumor of the cervix uteri","definition":"Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. 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Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. 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In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kokcidiomykóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Desert rheumatism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"San Joaquin valley fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Valley fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"California disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Coccidioides infection"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Desert fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kalifornská nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kokcidiová infekce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pouštní revmatismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pouštní horečka"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Horečka údolí San Joaquin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Údolní horečka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228123"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228119","display":"Fusariosis","definition":"Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, <i>Fusarium</i>, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. 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A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. 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Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. 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It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální ceroidlipofuscinosa, typ 10"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCL10"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuronal ceroid lipofuscinosis type 10"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit katepsinu D"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění CLN10"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228329","display":"CLN1 disease","definition":"A rare neuronal ceroid lipofuscinosis characterized by developmental delay, psychomotor regression, hypotonia, seizures, ataxia, movement disorders and visual impairment. It may present classically with infantile-onset (6-18 months) however late infantile (18 months-4 years), juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both infantile/late infantile onset patients, manifesting with progressive and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late infantile form) and brain atrophy. Infantile form is characterized by a short lifespan preceeded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální ceroidlipofuscinosa, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuronal ceroid lipofuscinosis type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCL1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění CLN1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228318","display":"OBSOLETE: Idiopathic hypersomnia without long sleep time","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Idiopatická hypersomnie bez dlouhého spánku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228318"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"33208"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"33208"}]},{"code":"228354","display":"CLN8 disease","definition":"A rare neuronal ceroid lipofuscinosis characterized classically by late infantile-onset (5-10 years) with rapid disease progression, myoclonus, visual loss and progressive intellectual disability (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial seizures without myoclonous, progressive intellectual disability and variable visual deficit, blindness being infrequent. This condition, also known as Northern epilepsy, is milder and slow progressing compared to the classical form of the disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální ceroidlipofuscinosa, typ 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCL8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuronal ceroid lipofuscinosis type 8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění CLN8"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228349","display":"CLN2 disease","definition":"A rare neuronal ceroid lipofuscinosis characterized by neurodevelopmental delay, impaired motor and language skills, progressive dementia, visual deterioration, extrapyramidal signs, progressive gait dysfunction, seizures and brain atrophy. It may present rarely with infantile (2-18 months), classically late infantile (2-4 years) and juvenile-onset (6-10 years). Infantile-onset and late infantile-onset patients are reported to have rapid disease progression leading to complete loss of motor function within 6 years and may be fatal, whereas juvenile onset patients were reported to have milder clinical features including mild learning disability, behavior abnormalities associated with dementia and progressive cognitive function regression. Extrapyramidal, cerebellar signs, retinal degeneration and vision loss may be observed later in the adulthood. This form is most frequently observed in Southern Europe.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální ceroidlipofuscinosa, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCL2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuronal ceroid lipofuscinosis type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění CLN2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228346","display":"CLN3 disease","definition":"A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset progressive vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), seizures, progressive cognitive impairment with a precipitous decline to dementia, progressive motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar myopathy. Seizures in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized epilepsy syndrome and progressive neurologic deterioration, seizures and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální ceroidlipofuscinosa, typ 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuronal ceroid lipofuscinosis type 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění CLN3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228343","display":"CLN4 disease","definition":"A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) progressive generalized tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuronální ceroidlipofuscinosa, typ 4B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCL4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuronal ceroid lipofuscinosis type 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění CLN4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228290","display":"White fibrous papulosis of the neck","definition":"White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bílá fibrózní papulóza krku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228293","display":"Pseudoxanthoma elasticum-like papillary dermal elastolysis","definition":"Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Papilární kožní elastocytóza podobná pseudoxanthoma elasticum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PXE-like papillary dermal elastolysis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Papilární kožní elastocytóza podobná PXE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228299","display":"Mid-dermal elastolysis","definition":"A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mid-dermální elastolýza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228302","display":"Carnitine palmitoyl transferase II deficiency, myopathic form","definition":"The myopathic form of carnitine palmitoyltransferase II (CPT II) 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Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Elastoderma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228243","display":"Elastofibroma dorsi","definition":"Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Elastofibroma dorsi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"135","display":"CACH syndrome","definition":"A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CACH syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Childhood ataxia with diffuse central nervous system hypomyelination"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leukoencephalopathy with vanishing white matter"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Myelinosis centralis diffusa"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leukoencefalopatie s mizející bílou hmotou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Myelinosis centralis diffusa"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dětská ataxie s difuzní hypomyelinizací centrálního nervového systému"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"228247","display":"Acquired pseudoxanthoma elasticum","definition":"A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. 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Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. 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Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. 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Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. 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Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. 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Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující progresivní supranukleární obrnu a čistým akinetickým freezingem chůze"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PSP-PAGF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PSP-pure akinesia with gait freezing"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PSP‑ PAGF"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PSP s čistým akinetickým freezingem chůze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"683"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"240085","display":"Progressive supranuclear palsy-predominant parkinsonism syndrome","definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující progresivní supranukleární obrnu a parkinsonismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PSP-p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PSP-parkinsonism"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PSP-p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PSP s parkinsonismem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"683"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"240760","display":"Nijmegen breakage syndrome-like disorder","definition":"Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Porucha podobná nijmegenskému breakage syndromu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Microcephaly and chromosomal instability without immunodeficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NBS-like disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NBSLD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RAD50 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikrocefalie a chromozomální nestabilita bez imunodeficience"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NBS-like disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NBSLD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RAD50"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"331226","display":"Susceptibility to infection due to TYK2 deficiency","definition":"A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. 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Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Selektivní deficit IgM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Selective immunoglobulin M deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Selektivní deficit imunoglobulinu 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Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní těžká vrozená neutropenie způsobená G6PC3 deficitem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCN due to G6PC3 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCN4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe congenital neutropenia type 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCN4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžká vrozená neutropenie, typ 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující těžkou vrozenou neutropenii, plicní hypertenzi a superficiální venózní angiektázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"331184","display":"Syndrome with congenital neutropenia as a major feature","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Konstituční neutropenie s extra-hematopoetickými projevy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndrome with constitutional neutropenia as a major feature"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndrome with genetic neutropenia as a major feature"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"331187","display":"Immunodeficiency due to MASP-2 deficiency","definition":"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). 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The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Imunodeficience způsobená ficolin3 deficitem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"331193","display":"Other immunodeficiency syndromes due to defects in innate immunity","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jiné syndromy imunodeficience způsobené poruchami vrozené imunity"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331193"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"331206","display":"T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiency","definition":"Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. 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Chest x-rays typically show patchy opacities predominantly in the right middle lobe.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Výškový plicní edém"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAPE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HAPE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330015","display":"Lead poisoning","definition":"Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. 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Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující beta talasémii s hemoglobinem Lepore"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HbLepore-beta-thalassemia syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lepore-beta-thalassemia syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330041","display":"Hemoglobin M disease","definition":"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní methemoglobinemie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant methemoglobinemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"M hemoglobinopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nemoc M hemoglobinu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"M hemoglobinopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná methemoglobinemie způsobená vrozenou mutací hemoglobinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330021","display":"Mercury poisoning","definition":"Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otrava rtutí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydrargyria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mercurialism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mercury intoxication"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330021"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330029","display":"Hypotrichosis-deafness syndrome","definition":"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypotrichózu a hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypotrichosis-hearing loss syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330058","display":"Hydroa vacciniforme","definition":"A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hydroa vacciniforme"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330061","display":"Actinic prurigo","definition":"A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aktinické prurigo"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial polymorphous light eruption of American Indians"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary polymorphous light eruption of American Indians"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hutchinson summer prurigo"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydroa aestivale"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"330050","display":"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Letální encefalopatie způsobená mitochondriální a peroxisomální poruchou štěpení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"527276"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"330054","display":"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","definition":"A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou kataraktu, progresivní svalovou hypotonii, ztrátu sluchu a vývojové opoždění"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vrozenou kataraktu, progresivní svalovou hypotonii, hluchotu a vývojové opoždění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329813","display":"Mosaic genome-wide paternal uniparental disomy syndrome","definition":"A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Celogenomová paternální uniparentální dizomie v mozaice"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Androgenetic/biparental mosaicism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Genome-wide paternal uniparental disomy mosaicism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic genome-wide paternal UPD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Androgenetický/biparentální mosaicismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mozaická celogenomová paternální uniparentální dizomie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Celogenomová paternální UPD v mozaice"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329802","display":"5p13 microduplication syndrome","definition":"A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 5p13"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(5)(p13)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 5p13"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(5)(p13)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 5p13"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329883","display":"Non-hypoproteinemic hypertrophic gastropathy","definition":"A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Non-hypoproteinemická hypertrofická gastropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypertrophic gastropathy without hypoproteinemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypertrofická gastropatie bez hypoproteinemie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329874","display":"Idiopathic giant cell myocarditis","definition":"A rare cardiac disease characterized by rapidly progressing myocarditis of unknown origin that may lead to progressive heart failure, heart block, ventricular arrhythmias, or sudden cardiac death. It is histologically characterized by myocardial necrosis and fibrosis with multinucleated giant cells and inflammatory cell infiltrate. Some patients have associated autoimmune disorders. It is a high-mortality risk condition and patients often require a heart transplant.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Obrovskobuněčná myokarditida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IGCM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IGCM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329475","display":"Spastic paraplegia-Paget disease of bone syndrome","definition":"Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spastickou paraplegii a Pagetovu nemoc kostí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329481","display":"Lipoprotein glomerulopathy","definition":"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lipoproteinová glomerulopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LPG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LPG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329478","display":"Adult-onset distal myopathy due to VCP mutation","definition":"A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adultní distální myopatie způsobená mutací VCP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329942","display":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","definition":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit dehydrogenace mnohočetných acyl-CoA, tranzientní novorozenecký typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient neonatal MAD deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient neonatal MADD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient neonatal glutaric acidemia type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient neonatal glutaric aciduria type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tranzientní neonatální MAD deficit"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tranzientní neonatální MADD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tranzientní neonatální glutarová acidemie, typ 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tranzientní neonatální glutarová acidurie, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"329931","display":"C3 glomerulonephritis","definition":"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Glomerulonefritida spojená s poklesem C3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"54370"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"329971","display":"Generalized juvenile polyposis/juvenile polyposis coli","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná juvenilní polypóza/juvenilní polyposis coli"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2929"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"329967","display":"Intermittent hydrarthrosis","definition":"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. 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This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ABeta amyloidóza, arktický typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ABetaE22G amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HCHWA, Arctic type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary cerebral hemorrhage with amyloidosis, Arctic type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ABetaE22G amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HCHWA, arktický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární cerebrální krvácení s amyloidózou, arktický typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"85458"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"324648","display":"Invasive non-typhoidal salmonellosis","definition":"Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of <i> Salmonella enterica </i> in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. 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The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. 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This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. 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This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ABetaL34V amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ABeta amyloidosis, Piedmont type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ABetaL34V-related amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HCHWA, Piedmont type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary cerebral hemorrhage with amyloidosis, Piedmont type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ABetaL34V-vázaná amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Beta amyloidóza, piedmontský typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HCHWA, piedmontský typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární cerebrální krvácení s amyloidózou, piedmontský typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"85458"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"324611","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","definition":"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). 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Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infekce virem Hendra"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324625","display":"Chikungunya","definition":"A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chikungunya"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324588","display":"Familial dyskinesia and facial myokymia","definition":"Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární dyskineze a faciální myokymie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FDFM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FDFM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324601","display":"X-linked cleft palate and ankyloglossia","definition":"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný rozštěp patra s ankyloglosií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324581","display":"Benign Samaritan congenital myopathy","definition":"Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Benigní samaritánská vrozená myopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324585","display":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","definition":"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní středně pokročilá Charcotova-Marieova-Toothova nemoc s neuropatickou bolestí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant intermediate CMT disease with neuropathic pain"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní středně pokročilá Charcot-Marie-Toothova nemoc s neuropatickou bolestí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324569","display":"Pontocerebellar hypoplasia type 8","definition":"Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the <i>CHMP1A</i> gene. 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Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující afonii, hluchotu, retinální dystrofii, zdvojené palce a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující afonii, hluchotu, retinální dystrofii, dvojité palce a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324561","display":"Hypopigmentation-punctate palmoplantar keratoderma syndrome","definition":"A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypopigmentaci a tečkovaná palmoplantární keratoderma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cole disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Guttate hypopigmentation and punctate palmoplantar keratoderma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypopigmentation and punctate keratosis of the palms and soles"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Coleova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kapkovitá hypopigmentace a tečkovaná palmoplantární keratoderma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypopigmentace a tečkovaná keratóza dlaní a chodidel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324530","display":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","definition":"A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoinflamace, PLCG2-asociovaný deficit protilátek a imunitní dysregulace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"APLAID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"APLAID"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324535","display":"Combined oxidative phosphorylation defect type 11","definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná porucha oxidativní fosforylace, typ 11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD11"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324525","display":"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","definition":"A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypertrofická kardiomyopatie a renální tubulární nemoc způsobená mutací mitochondriální DNA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypertrofická kardiomyopatie a renální tubulární nemoc způsobená mutací mtDNA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324442","display":"Autosomal recessive axonal neuropathy with neuromyotonia","definition":"A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní axonální neuropatie s neuromyotonií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ARAN-NM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ARCMT2-NM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ARAN-NM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ARCMT2-NM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, typ 2 s neuromyotonií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2 s neuromyotonií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324416","display":"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome","definition":"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující svalovou hypertrofii, hepatomegalii a polyhydramnion"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324422","display":"ALG13-CDG","definition":"A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ALG13-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type Is"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-Is"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG1S"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 1s"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type Is"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrom, typ Is"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-Is"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG1S"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená poruchy glykosylace, typ 1s"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená poruchy glykosylace, typ Is"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"324410","display":"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome","definition":"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. 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Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternálně dědičná spastická paraplegie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Maternally-inherited SPG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Maternally-inherited spastic paraplegia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maternálně dědičná SPG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320355","display":"Autosomal dominant spastic paraplegia type 41","definition":"A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní spastická paraplegie, typ 41"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG41"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG41"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320370","display":"Autosomal recessive spastic paraplegia type 43","definition":"Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 43"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG43"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG43"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320365","display":"Autosomal dominant spastic paraplegia type 36","definition":"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní spastická paraplegie, typ 36"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG36"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG36"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320380","display":"Autosomal recessive spastic paraplegia type 54","definition":"Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the <i>DDHD2</i> gene (8p11.23) encoding phospholipase DDHD2.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 54"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG54"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG54"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320375","display":"Autosomal recessive spastic paraplegia type 55","definition":"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the <i>C12ORF65</i> gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 55"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG55"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG55"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320391","display":"Autosomal recessive spastic paraplegia type 46","definition":"Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the <i>GBA2</i> gene (9p13.2) encoding non-lysosomal glucosylceramidase.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 46"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG46"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG46"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320385","display":"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation","definition":"A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 49"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spastic paraplegia type 49"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN due to TECPR2 mutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG49"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG49"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320401","display":"Autosomal recessive spastic paraplegia type 44","definition":"Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the <i>GJC2</i> gene (1q41-q42) encoding the gap junction gamma-2 protein.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 44"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG44"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG44"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320396","display":"Autosomal recessive spastic paraplegia type 45","definition":"Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 45"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spastic paraplegia type 65"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG45"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG65"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG45"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG65"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní spastická paraplegie, typ 65"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"320411","display":"Autosomal recessive spastic paraplegia type 56","definition":"A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 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spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spastickou paraplegii, atrofii optiku a 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Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární lymfom spojivky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary lymphoid conjunctival tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární lymfoidní nádor 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followed by a second phase characterized by neurological manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nemoc kyasanurského lesa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kyasanur hemorrhagic fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monkey disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monkey fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kjasanurská 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nephrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Omská hemoragická horečka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319266"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319276","display":"Clear cell renal carcinoma","definition":"A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom ledviny ze světlých buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CCRCC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Clear cell renal cell adenocarcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Clear cell renal cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CCRCC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adenokarcinom ze světlých buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adenokarcinom ze světlých renálních buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Světlobuněčný karcinom ledviny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319239","display":"Brazilian hemorrhagic fever","definition":"Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brazilská hemoragická horečka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sabia hemorrhagic fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hemoragicka´ horec?ka Sabia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hemoragická horečka Sabia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319239"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319244","display":"Chapare hemorrhagic fever","definition":"Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemoragická horečka Chapare"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319244"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319247","display":"Hantavirus pulmonary syndrome","definition":"A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hantavirový plicní syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319247"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319251","display":"Rift valley fever","definition":"Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Horečka údolí Rift"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319251"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319314","display":"OBSOLETE: Renal cell carcinoma associated with neuroblastoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Renální karcinom spojený s výskytem neuroblastomu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Renal cell carcinoma after neuroblastoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Renální karcinom po neuroblastomu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319314"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"217071"}]},{"code":"319319","display":"Renal medullary carcinoma","definition":"Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Medulární karcinom ledviny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319322","display":"Mucinous tubular and spindle cell renal carcinoma","definition":"Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mucinózní tubulární a vřetenobuněčný karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319325","display":"Tubulocystic renal cell carcinoma","definition":"Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Tubulocystický karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319287","display":"Multilocular cystic renal neoplasm of low malignant potential","definition":"Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Multilokulární cystický karcinom ledviny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MCRCC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular clear cell adenocarcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular clear cell carcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular clear cell renal cell adenocarcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular clear cell renal cell carcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular cystic renal cell adenocarcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular cystic renal cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multilokulární cystický renální adenokarcinom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multilokulární adenokarcinom světlých buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multilokulární karcinom světlých buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multilokulární adenokarcinom světlých renálních buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multilokulární karcinom světlých renálních buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"319276"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"319298","display":"Papillary renal cell carcinoma","definition":"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Papilární renální karcinom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Papillary renal cell adenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Papilární renální adenokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319303","display":"Chromophobe renal cell carcinoma","definition":"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chromofobní karcinom ledviny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chromophobe renal cell adenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chromofobní adenokarcinom ledviny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319308","display":"MiT family translocation renal cell carcinoma","definition":"MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the <i>TFE3</i> (Xp11 t-RCC) or <i>TFEB</i> [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Translokační karcinom ledviny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carcinoma associated with MITF/TFE translocation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Translocation renal cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Karcinom asociovaný s MITF/TFE translokací"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Translokační 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both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní myogenní artrogryposis multiplex congenita"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive myogenic AMC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SYNE1-related 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arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující Carneyho komplex, trismus a pseudokamptodaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carney complex variant"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Varianta Carneyho 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exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární papilární nebo folikulární tyroidní karcinom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FNMTC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial pure nonmedullary thyroid carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FNMTC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familia´rni´ cistý nemedula´rni´ karcinom s?ti´tne´ z?la´zy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární čistý nemedulární karcinom štítné žlázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319480","display":"Acute myeloid leukemia with CEBPA somatic mutations","definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie se somatickou mutací CEBPA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with CEBPA somatic mutations"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML se somatickou mutací CEBPA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319504","display":"Combined oxidative phosphorylation defect type 8","definition":"Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná porucha oxidativní fosforylace, typ 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD8"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319494","display":"Familial nonmedullary thyroid carcinoma","definition":"A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární nemedulární karcinom štítné žlázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319494"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"319465","display":"Inherited acute myeloid leukemia","definition":"Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená akutní myeloidní leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial AML"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Inherited AML"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pure familial AML"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pure familial acute myeloid leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární AML"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená AML"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Čistá familiární AML"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Čistá familiární akutní myeloidní leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319462","display":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations","definition":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičný syndrom predispozice k rakovině způsobený bialelickou mutací BRCA2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319205","display":"Bilateral massive adrenal hemorrhage","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Oboustranné masivní adrenální krvácení"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BMAH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bilateral adrenal hemorrhage"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BMAH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bilaterální krvácení do nadledvin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319205"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"95409"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"319213","display":"Lujo hemorrhagic fever","definition":"Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lujo hemoragická horečka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Zambian hemorrhagic fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Zambijská hemoragická horečka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319213"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319195","display":"Chondroectodermal dysplasia with night blindness","definition":"Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chondroektodermální dysplázie s noční slepotou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319199","display":"Autosomal recessive spastic paraplegia type 53","definition":"Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the <i>VPS37A</i> gene (8p22) encoding vacuolar protein sorting-associated protein 37A.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 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(MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bolivijská hemoragická horečka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Machupo hemorrhagic fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Machupo hemoragická 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Face, extraocular, cardiac, and respiratory muscles are unaffected. 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Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. 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On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Diencefalická-mezencefalická junkční dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"319182","display":"Wiedemann-Steiner syndrome","definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Wiedemannův-Steinerův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hypertrichózu, nízký vzrůst, faciální dysmorfismus a opoždění vývoje"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Wiedemann-Steinerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"317419","display":"T-B- severe combined immunodeficiency","definition":"T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. 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external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). 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Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. 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It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná imunodeficience způsobená deficitem STK4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CID due to STK4 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CID způsobená deficitem STK4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314684","display":"Primary bone lymphoma","definition":"Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kostní lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314652","display":"Variant ABeta2M amyloidosis","definition":"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Varianta ABeta2M amyloidózy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant beta2-microglobulinic amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Varianta amyloidózy chronicky dialyzovaných"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní amyloidóza s beta2-mikroglobulinem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314647","display":"Non-progressive cerebellar ataxia with intellectual disability","definition":"A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neprogresivní cerebelární ataxie s mentální retardací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314662","display":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","definition":"A rare <i>PIK3CA</i>-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. 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Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. 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Mild growth retardation and reduced bone density are extra-renal complications. 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Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). 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Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). 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Dysphonia and dysarthria also occur later in the disease course.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární dystonie, typ DYT17"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370097","display":"Oculocutaneous albinism type 6","definition":"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Okulokutánní albinismus, typ 6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OCA6"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OCA6"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370091","display":"Oculocutaneous albinism type 5","definition":"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. 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It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. 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Clinical presentation is highly variable and depends on tumor localization. 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trunk and/or limbs. 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Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující ataxii, mentální retardaci, okulomotorickou apraxii a mozečkové cysty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Poretti-Boltshauser syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370026","display":"Acute myeloid leukemia with t(8;16)(p11;p13) translocation","definition":"A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found <i>de novo</i> or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie s translokací t(8;16)(p11;p13)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with t(8;16)(p11;p13) translocation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML s translokací t(8;16)(p11;p13)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370015","display":"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type","definition":"A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie, typ Isidor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMDIST"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepimetaphyseal dysplasia with severe short stature"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370019","display":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie, typ Czarny-Ratajczak"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370019"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"168555"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"168555"}]},{"code":"370088","display":"Acute infantile liver failure-multisystemic involvement syndrome","definition":"A rare genetic parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. 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Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. 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syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrokorneu, myopickou chorioretinální atrofii a telekantus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMCAT syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MMCAT syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"369962","display":"Methylmalonic acidemia with homocystinuria, type cblX","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Methylmalonová acidemie s homocystinurií, typ cbIX"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Methylmalonic aciduria with homocystinuria, type cblX"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kombinovaná porucha syntézy adenosylkobalaminu a methylkobalaminu, typ cbIX"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Methylmalonová acidurie s homocystinurií, typ cbIX"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"26"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"369979","display":"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome","definition":"A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). 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Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou dermatitidu, mnohočetné alergie a metabolickou kachexii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SAM syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SAM syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vrozenou erytrodermii, hypotrichózu, opakující se infekce a mnohočetné potravinové alergie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370002","display":"Focal palmoplantar keratoderma with joint keratoses","definition":"A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fokální palmoplantární keratoderma s kloubními keratózami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"369999","display":"Diffuse palmoplantar keratoderma with painful fissures","definition":"A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Difuzní palmoplantární keratoderma s bolestivými fisurami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"370010","display":"Intellectual disability-facial dysmorphism-hand anomalies syndrome","definition":"Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. 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Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, záchvaty, hypotonii a oční a kostní anomálie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation due to PIGT deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MCAHS type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multiple congenital anomalies-hypotonia-seizures syndrome type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PIGT-CDG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"369840","display":"TRAPPC11-related limb-girdle muscular dystrophy R18","definition":"A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní pletencová svalová dystrofie, typ 2S"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive limb-girdle muscular dystrophy type 2S"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGMD type 2S"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGMD2S"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Limb-girdle muscular dystrophy type 2S"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TRAPPC11-related LGMD R18"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LGMD2S"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"369847","display":"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome","definition":"A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. 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The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou sideroblastickou anémii, B-buněčnou imunodeficienci, periodickou horečku a opoždění vývoje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SIFD syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SIFD syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"369867","display":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C","definition":"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní středně těžká Charcotova-Marieova-Toothova nemoc, typ C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RI-CMT type C"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RI-CMT typ C"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní středně těžká Charcot-Marie-Toothova nemoc, typ C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"369873","display":"Obesity due to SIM1 deficiency","definition":"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Obezita způsobená deficitem SIM1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"98267"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"369881","display":"2p21 microdeletion syndrome without cystinuria","definition":"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). 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acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. 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Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká dystrofie sítnice s časným nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EOSRD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Early-onset severe retinal dystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SECORD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EOSRD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SECORD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžká dystrofie sítnice s časným nástupem v dětském věku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"364039","display":"Hydroa vacciniforme-like lymphoma","definition":"A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymfom \"Hydroa vacciniforme-like"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Angiocentric cutaneous T-cell lymphoma of childhood"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HVLL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydroa-like cutaneous T-cell lymphoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"364043","display":"ALK-positive large B-cell lymphoma","definition":"A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). 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Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázané mentální postižení způsobené GRIA3 anomáliemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"364033","display":"Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood","definition":"A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. 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Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infantilní Refsumova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IRD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mild PBD-ZSD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mild peroxisome biogenesis disorder-Zellweger spectrum disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IRD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1194","display":"TMEM70-related mitochondrial encephalo-cardio-myopathy","definition":"Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"TMEM70-vázaná mitochondriální encefalokardiomyopatie"},{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"definition"},"value":"Mitochondriální encefalokardiomyopatie v důsledku mutace TMEM70 se projevuje již u novorozenců hypotonií, hypetrofickou kardiomyopatií (zbytnění srdeční svaloviny) a apnoickými pauzami (vynechání dechu na více než 20 sekund) a to již během několika hodin po porodu. Projevy doprovází laktátová acidóza, hyperamonémie a 3-metylglutakonová acidurie (3-MGA)."},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mitochondriální encefalokardiomyopatie způsobená deficitem F1Fo 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the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Imunitní hydrops fetalis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IHF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immune HF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immune fetal edema"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immune fetal 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This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná anencefalie/exencefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"823","display":"Spina bifida and other spinal dysraphisms","definition":"A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná spina bifida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated spina bifida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated spinal dysraphism"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"363989","display":"Familial benign flecked retina","definition":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rodinná nezhoubná skvrna sítnice"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363992","display":"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome","definition":"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující ichtyózu, nízký vzrůst, brachydaktylii a mikrosférofakii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"15q26.3 microdeletion syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikrodeleční syndrom 15q26.3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363976","display":"Giant cell tumor of bone","definition":"A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Obrovskobuněčný nádor kostí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GCT of bone"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Osteoclastoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"GCT kostí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363981","display":"Charcot-Marie-Tooth disease type 4B3","definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood onset of slowly progressing, demyelinating or axonal sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38&nbsp;m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and absence of deep tendon reflexes). 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Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Talus bipartitus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363417","display":"Temtamy preaxial brachydactyly syndrome","definition":"A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Temtamyové syndrom preaxiální brachydaktylie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363409","display":"Fetal akinesia-cerebral and retinal hemorrhage syndrome","definition":"Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující fetální akinezi a krvácení do mozku a do sítnice"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LCCS5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lethal congenital contracture syndrome type 5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363412","display":"Hypomyelination with brain stem and spinal cord involvement and leg spasticity","definition":"A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypomyelinizace s postižením mozkového kmene a míchy a spasticitou dolních končetin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HBSL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HBSL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363429","display":"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","definition":"A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní syndrom zahrnující cerebelární ataxii, pyramidové jevy, nystagmus a okulomotorickou apraxii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363432","display":"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency","definition":"A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. 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Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující akroosteolýzu, keloidní léze a předčasné stárnutí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Premature aging syndrome, Penttinen type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom předčasného stárnutí, typ Penttinenové"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363540","display":"Leukoencephalopathy with mild cerebellar ataxia and white matter edema","definition":"A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leukoencefalopatie s mírnou cerebelární ataxií a edémem bílé hmoty"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leukoencefalopatie s mírnou mozečkovou ataxií a edémem bílé hmoty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363543","display":"Autosomal recessive limb-girdle muscular dystrophy type 2R","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní pletencová svalová dystrofie, typ 2R"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGMD2R"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LGMD2R"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní pletencová svalová dystrofie způsobená deficitem desminu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363543"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"98909"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"98909"}]},{"code":"363549","display":"Acute encephalopathy with biphasic seizures and late reduced diffusion","definition":"A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. 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Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nově vzniklý refrakterní status epilepticus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NORSE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NORSE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363567","display":"Acute encephalopathy with inflammation-mediated status epilepticus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní encefalopatie se status epilepticus na podkladě zánětu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"363579","display":"Extragonadal germ cell tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Extragonadální germinální nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"363582","display":"Gonadal germ cell tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gonadální germinální nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363582"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"363611","display":"CTCF-related neurodevelopmental disorder","definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, poruchy příjmu potravy, opoždění vývoje a mikrocefalii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363504","display":"Germ cell tumor of testis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Germinální nádor varlat"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Testicular germ cell tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Testikulární germinální nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"363494","display":"Non-seminomatous germ cell tumor of testis","definition":"A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Non-seminomový germinální nádor varlat"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-dysgerminomatous germ cell tumor of testis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Testicular non seminomatous germ cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Testicular non-dysgerminomatous germ cell tumor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363523","display":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome","definition":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypohidrózu, hypoplázii zubní skloviny, palmoplantární keratoderma a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Shaheen syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363534","display":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","definition":"A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hypore&#64258;exia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom deplece mitochondriální DNA, hepatocerebrorenální forma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"mtDNA depletion syndrome, hepatocerebrorenal form"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom deplece mtDNA, hepatocerebrorenální forma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363528","display":"Intellectual disability-strabismus syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci a strabismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363444","display":"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome","definition":"A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. 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The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní proximální spinální svalová atrofie s nástupem v dětství"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMALED"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMALED"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní proximální spinální svalová atrofie, predominantně na dolních končetinách"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363478","display":"Paratesticular adenocarcinoma","definition":"A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paratestikulární adenokarcinom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adenocarcinoma of the paratestis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adenokarcinom paratestikulární"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"363472","display":"Tumor of testis and paratestis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Testikulární a paratestikulární nádor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Testicular and paratesticular tumor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"363489","display":"Sex cord-stromal tumor of testis","definition":"A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. 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Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. 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It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. 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It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená dislokace lokte"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital elbow dislocation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená dislokace hlavice radia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"295034","display":"Congenital knee dislocation","definition":"A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. 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It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. 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The affected bone is shortened and angulated at the site of the pseudoarthrosis. 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Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. 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It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epiteloidní sarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"293284","display":"Tetrahydrobiopterin-responsive phenylketonuria","definition":"A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hyperfenylalaninemie/fenylketonurie reagující na tetrahydrobiopterin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BH4-responsive PKU"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BH4-responsive phenylketonuria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Tetrahydrobiopterin-responsive PKU"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HPA/PKU reagující na BH4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hyperfenylalaninemie/fenylketonurie reagující na BH4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HPA/PKU reagující na tetrahydrobiopterin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"716"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"293208","display":"Celiac artery compression syndrome","definition":"A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. 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The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mansoneliáza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mansonellosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mansonelóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2459"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2404","display":"Loiasis","definition":"Loiasis is a form of filariasis, caused by the parasitic worm <i>Loa loa</i>, endemic to the forest and savannah regions of Central and Western Africa. 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Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CLIPPERS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronický lymfocytární zánět s pontinním perivaskulárním zvýrazněním, odpovídající na steroidy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"284454","display":"Acute zonal occult outer retinopathy","definition":"A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. 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Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. 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Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující aneuryzma a osteoartrózu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AOS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"284979","display":"Neonatal Marfan syndrome","definition":"Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). 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Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární vezikoureterální reflux"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial VUR"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární VUR"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289347","display":"Infective dermatitis associated with HTLV-1","definition":"Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent <i>Staphylococcus aureus</i> or beta-hemolytic <i>Streptococcus</i> infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infekční dermatitida asociovaná s HTLV-1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IDH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infective dermatitis associated with human T-lymphotropic virus type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infective dermatitis associated with human T-lymphotropic virus type I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IDH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infekční dermatitida asociovaná s lidským T-lymfotropickým virem typu 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infekční dermatitida asociovaná s lidským T-lymfotropickým virem typu I"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289356","display":"Primary non-gestational choriocarcinoma of ovary","definition":"Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární non-gestační choriokarcinom ovária"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NGCO"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary non-gestational ovarian choriocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NGCO"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární non-gestační ovariální choriokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289377","display":"Early-onset myopathy with fatal cardiomyopathy","definition":"A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myopatie s časným nástupem a fatální kardiomyopatií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EOMFC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Salih myopathy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289380","display":"Myosclerosis","definition":"Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myoskleróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital myosclerosis, Löwenthal type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená myoskleróza, Löwenthalův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289290","display":"Hypermethioninemia encephalopathy due to adenosine kinase deficiency","definition":"Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypermethioninémie a encefalopatie způsobená deficitem adenozinkinázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADK hypermethioninemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypermethioninemia encephalopathy due to ADK deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADK hypermethioninémie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypermethioninémie a encefalopatie způsobená deficitem 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intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epileptická encefalopatie a mentální retardace s časným nástupem způsobená GRIN2A mutací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289326","display":"Tropical spastic paraparesis","definition":"Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Tropická spastická paraparéza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAM/TSP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HTLV-1-associated myelopathy/tropical spastic paraparesis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic 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Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vývojové opoždění způsobené deficitem methylmalonátsemialdehyddehydrogenázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Developmental delay due to ALDH6A1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Developmental delay due to MMSDH deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vývojové opoždění způsobené deficitem ALDH6A1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vývojové opoždění způsobené deficitem MMSDH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289504","display":"Combined malonic and methylmalonic acidemia","definition":"A rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná malonová a methylmalonová acidémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMAMMA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined malonic and methylmalonic aciduria"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMAMMA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kombinovaná malonová a methylmalonová acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289499","display":"Congenital cataract microcornea with corneal opacity","definition":"A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená mikrokornea a katarakta s korneální opacitou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CCMCO"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CCMCO"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). 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It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená izolovaná adermatoglyfie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital absence of fingerprints"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immigration delay disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená absence otisků prstů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289395","display":"NON RARE IN EUROPE: Secondary Sjögren syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Sekundární Sjögrenův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Secondary Sjögren-Gougerot syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289395"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289390","display":"Primary Sjögren disease","definition":"A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární Sjögrenův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary SjD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary Sjögren syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primary Sjögren-Gougerot syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289385","display":"Malignancy diagnosed during pregnancy","definition":"A rare condition characterized by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynecologic tumors, especially cervical cancer, followed by hematologic malignancies. Patient management should be carried out by a multidisciplinary team of specialists.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malignity diagnostikované během těhotenství"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cancer diagnosed during pregnancy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nádory diagnostikované během těhotenství"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289483","display":"Intellectual disability-alacrima-achalasia syndrome","definition":"Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, alakrimii a achalázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289478","display":"PASH syndrome","definition":"A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující pyoderma gangrenosum, akné a hidradenitis suppurativa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PASH syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"289103","display":"Hypocalcemic rickets","definition":"A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypokalcemická křivice"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"289098","display":"Disorders of vitamin D metabolism","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy metabolismu vitaminu D"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"289176","display":"Autosomal recessive hypophosphatemic rickets","definition":"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní hypofosfatemická 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Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická panuveitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280921"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"280917","display":"Idiopathic posterior uveitis","definition":"Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). 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The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. 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Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. 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Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Larsen-like syndrom, typ B3GAT3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mnohočetné dislokace kloubů, malý vzrůst, kraniofaciální dysmorfismus a vrozené srdeční vady"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"284180","display":"Xp22.13p22.2 duplication syndrome","definition":"A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom Xp22.13p22.2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(X)(p22)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(X)(p22.13p22.2)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Duplication Xp22"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(X)(p22)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(X)(p22.13p22.2)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Duplikace Xp22"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"284169","display":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion","definition":"A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. 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Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. 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Epilepsy, stroke-like episodes, sensory dysfunction, dizziness, fatigue, urinary and fecal incontinence are commonly observed in affected individuals. 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Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spastická ataxie a neuropatie s časným nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spastic ataxia type 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPAX5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující AFG3L2-vázanou spastickou ataxii a neuropatii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPAX5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní spastická ataxie, typ 5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314603","display":"Autosomal recessive spastic ataxia with leukoencephalopathy","definition":"A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická ataxie s leukoencefalopatií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ARSAL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spastic ataxia type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPAX3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ARSAL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPAX3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní spastická ataxie, typ 3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314597","display":"Chudley-McCullough syndrome","definition":"Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. 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It may present at any time after chemotherapy, with a median occurrence within 24 months after treatment completion. Per definition, the resected specimen exclusively contains mature teratoma components, and serum tumor markers have normalized. The retroperitoneum is the most common site, although almost any other localization has been reported. 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Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární progresivní apraxie řeči"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPAOS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPAOS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární progresivní řečová apraxie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314555","display":"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome","definition":"A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující obličejový dysmorfismus, těžkou myopii, osteopenii, mentální retardaci a zubní anomálie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hamamy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hamamyové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kraniofaciální dysplázii a osteopenii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314466","display":"Atypical Meigs syndrome","definition":"A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. 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Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pseudo-Meigsův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pseudo-Demons-Meigs syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudo-Demonsův-Meigsův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudo-Demons-Meigsův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314478","display":"Ovarian fibrothecoma","definition":"Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ovariální fibrothékom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314473","display":"Ovarian fibroma","definition":"A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ovariální fibrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314422","display":"Ameloblastic carcinoma","definition":"A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ameloblastický karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314425","display":"Rare odontogenic tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné odontogenní nádory"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314425"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"314432","display":"Spigelian hernia-cryptorchidism syndrome","definition":"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hernia Spiegeli a kryptorchismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující Spiegelovu kýlu a kryptorchismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314451","display":"Meigs syndrome","definition":"Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Meigsův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Demons-Meigs syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Demonsův-Meigsův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Demons-Meigsův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314394","display":"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome","definition":"A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující malý vzrůst, onychodysplázii, faciální dysmorfismus a hypotrichózu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SOFT syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SOFT syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314399","display":"Autosomal dominant aplasia and myelodysplasia","definition":"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní aplázie kostní dřeně a myelodysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant aplastic anemia and myelodysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní aplázie a myelodysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314404","display":"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome","definition":"A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní cerebelární ataxie, hluchota a narkolepsie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADCA-DN syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADCA-DN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující autozomálně dominantní cerebelární ataxii, hluchotu a narkolepsii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314419","display":"Ameloblastoma","definition":"A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ameloblastom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314373","display":"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity","definition":"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronický průjem způsobený zvýšenou aktivitou guanylátcyklázy 2C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314376","display":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","definition":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mekoniový ileus způsobený deficitem guanylátcyklázy 2C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Meconium ileus due to guanylate cyclase 2C deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Střevní obstrukce u novorozence způsobená deficitem guanylátcyklázy 2C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314381","display":"Hereditary sensory and autonomic neuropathy type 6","definition":"A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární senzorická a autonomní neuropatie, typ 6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary sensory and autonomic neuropathy type VI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial dysautonomia with contractures"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární dysautonomie s kontrakturami"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN6"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314389","display":"Xq12-q13.3 duplication syndrome","definition":"Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Duplikační syndrom Xq12-q13.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(X)(q12-q13.3)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kaya-Prontera syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(X)(q12-q13.3)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314034","display":"7p22.1 microduplication syndrome","definition":"7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 7p22.1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(7)(p22.1)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 7p22.1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(7)(p22.1)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 7p22.1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314041","display":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","definition":"A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující marfanoidní habitus, tříselnou kýlu a urychlený kostní věk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"314051","display":"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome","definition":"A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující leukoencefalopatii, anomálie thalamu a mozkového kmene a vysokou hladinu laktátu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD12"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined oxidative phosphorylation defect type 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Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. 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The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. 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Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. 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Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mnohočetné vrozené anomálie, hypotonii a záchvaty, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MCAHS type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MCAHS typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300501","display":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome","definition":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující bolestivé orbitální a systémové neurofibromy a marfanoidní habitus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300504","display":"Onychocytic matricoma","definition":"A rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Onychocytární matrikom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acanthoma of the nail matrix"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akantom matrix nehtů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300512","display":"Onychomatricoma","definition":"Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. 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Molecular testing is obligatory to confirm the diagnosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ehlers-Danlosův syndrom, forma kyfoskoliotická s hluchotou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FKBP14-related EDS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FKBP22-deficient EDS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kyphoscoliotic EDS due to FKBP22 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"kEDS-FKBP14"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EDS s progresivní kyfoskoliózou, myopatií a hluchotou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EDS s progresivní kyfoskoliózou, myopatií a ztátou sluchu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EDS, kyfoskoliotická forma se ztrátou sluchu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ehlers-Danlosův syndrom s progresivní kyfoskoliózou, myopatií a hluchotou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ehlers-Danlosův syndrom s progresivní kyfoskoliózou, myopatií a ztrátou sluchu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ehlers-Danlosův syndrom, kyfoskoliotická forma se ztrátou sluchu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"536545"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"300319","display":"Charcot-Marie-Tooth disease type 2P","definition":"Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. 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Patients are most frequently asymptomatic or may present with mild splenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perzistující polyklonální B-buněčná lymfocytóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPBL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPBL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Perzistentní polyklonální B-buněčná lymfocytóza s dvoujadernými lymfocyty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300313","display":"Congenital cataract-hearing loss-severe developmental delay syndrome","definition":"Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou kataraktu, ztrátu sluchu a těžké opoždění vývoje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital cataract-deafness-severe developmental delay syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Huppke-Brendel syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lethal neurodegenerative disorder due to copper transport defect"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vrozenou kataraktu, hluchotu a těžké opoždění vývoje"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Letální neurodegenerativní onemocnění způsobené poruchou transportu mědi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300298","display":"Severe congenital hypochromic anemia with ringed sideroblasts","definition":"A very rare severe non-syndromic hypochromic anemia characterized by transfusion-dependent hypochromic, poorly regenerative anemia and iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká vrozená hypochromní anémie s prstenčitými sideroblasty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe congenital hypochromic sideroblastic anemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžká vrozená hypochromní sideroblastická anémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300305","display":"11p15.4 microduplication syndrome","definition":"A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 11p15.4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(11)p(15.4)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 11p15.4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(11)p(15.4)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 11p15.4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300284","display":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency","definition":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. 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Reduction or normalization of triglyceride serum levels occurs with advancing age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Přechodná infantilní hypertriglyceridémie a hepatosteatóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient infantile hypertriglyceridemia and fatty liver"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Přechodná infantilní hypertriglyceridémie a steatóza jater"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300385","display":"Pituitary carcinoma","definition":"A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pituitární karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300493","display":"Sagliker syndrome","definition":"A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Saglikerových syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300373","display":"X-linked acrogigantism","definition":"A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární infantilní gigantismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial infantile gigantism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary infantile gigantism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary pituitary hyperplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile gigantism due to pituitary hyperplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-LAG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární infantilní gigantismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární pituitární hyperplázie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-LAG (X-vázaný akrogigantismus)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infantilní gigantismus způsobený pituitární hyperplázií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300382","display":"Progeroid and marfanoid aspect-lipodystrophy syndrome","definition":"A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). 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Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní systémový lupus erythematodes"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal SLE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial SLE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial systemic lupus erythematosus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární SLE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární systémový lupus erythematodes"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní SLE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300359","display":"PLCG2-associated antibody deficiency and immune dysregulation","definition":"A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární chladová kopřivka s běžnou variabilní imunodeficiencí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FACU"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial atypical cold urticaria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial cold urticaria with common variable immunodeficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLAID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FACU"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nedostatek protilátek a imunitní dysregulace asociované s PLCG2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PLAID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární atypická chladová kopřivka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300333","display":"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome","definition":"A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující nefrotický syndrom, hluchotu a pretibiální epidermolysis bullosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBS with nephropathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epidermolysis bullosa simplex with nephropathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující nefrotický syndrom, ztrátu sluchu a pretibiální epidermolysis bullosa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"300337","display":"OBSOLETE: Congenital blindness due to retinal non-attachment","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Vrozená slepota způsobená odchlípením sítnice"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Vrozené odchlípení sítnice"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Nesyndromické vrozené odchlípení sítnice"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: NCRNA onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300337"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"91495"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"91495"}]},{"code":"464682","display":"OBSOLETE: Disorder with acute infantile liver failure","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Porucha s akutním dětským selháním jater"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464682"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"101939"}]},{"code":"464724","display":"Fever-associated acute infantile liver failure syndrome","definition":"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom jaterního selhání kojenců vázaného na horečku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464738","display":"Basel-Vanagaite-Smirin-Yosef syndrome","definition":"A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou kataraktu, mikrocefalii, nevus flammeus simplex a těžkou mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464760","display":"Familial cavitary optic disc anomaly","definition":"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární dutinková anomálie papily"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial CODA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familial CODA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární CODA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464756","display":"Familial gastric type 1 neuroendocrine tumor","definition":"A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární neuroendokrinní tumor žaludku, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464764","display":"Immune-mediated acquired neuromuscular junction disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Imunitně mediovaná získaná porucha nervosvalové ploténky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464764"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"465508","display":"Symptomatic form of HFE-related hemochromatosis","definition":"A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Symptomatická forma hemochromatózy, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Symptomatic form of classic hemochromatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Symptomatic form of hemochromatosis type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Symptomatic form of classic hemochromatosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Symptomatic form of HFE-related hereditary hemochromatosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Symptomatická forma klasické hemochromatózy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Symptomatická forma dědičné hemochromatózy související s HFE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464282","display":"Spastic paraplegia-severe developmental delay-epilepsy syndrome","definition":"Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spastickou paraplegii, těžké vývojové opoždění a epilepsii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPPRS syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spastic paraplegia-psychomotor retardation-seizures syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPPRS syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spastic paraplegia-psychomotor retardation-seizures syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPPRS syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující spastickou paraplegii, psychomotorickou retardaci a záchvaty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464288","display":"Short stature-brachydactyly-obesity-global developmental delay syndrome","definition":"A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující malý vzrůst, brachydaktylii, obezitu a vývojové opoždění"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SBIDDS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SBIDDS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464306","display":"DYRK1A-related intellectual disability syndrome","definition":"A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"DYRK1A-vázaný syndrom s mentální retardací"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYRK1A syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464293","display":"NON RARE IN EUROPE: Infantile capillary hemangioma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Infantilní kapilární hemangiom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464329","display":"Kaposiform lymphangiomatosis","definition":"A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kaposiformní lymfangiomatóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464321","display":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","definition":"A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom multifokální lymfangioendoteliomatózy a trombocytopenie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cutaneovisceral angiomatosis-thrombocytopenia syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MLT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multifocal lymphangioendotheliomatosis with thrombocytopenia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MLT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cutaneovisceral angiomatosis-thrombocytopenia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multifocal lymphangioendotheliomatosis with thrombocytopenia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom kutánněviscerální angiomatózy a trombocytopenie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Multifokální lymfangioendoteliomatóza s trombocytopenií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464318","display":"Verrucous venous malformation","definition":"A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Verukózní hemangiom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Verrucous haemangioma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Verrucous hemangioma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464311","display":"Intellectual disability syndrome due to a DYRK1A point mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom s mentální retardací způsobený bodovou mutací DYRK1A"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYRK1A-related intellectual disability syndrome due to a point mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYRK1A-related intellectual disability syndrome due to a point mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom mentálního postižení souvisejícího s DYRK1A způsobený bodovou mutací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"464306"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"464366","display":"NEK9-related lethal skeletal dysplasia","definition":"NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEK9-vázaná letální skeletální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující letální skeletální dysplázii, fetální akinezi, kontrakce, hrudní dysplázii a plicní hypoplázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464359","display":"Benign metanephric tumor","definition":"A rare renal tumor characterized by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumor) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, hematuria, and/or polycythemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythemia or hematuria. Metanephric stromal tumor typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or hemorrhage.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Benigní metanefrický nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464343","display":"Catastrophic antiphospholipid syndrome","definition":"A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Katastrofický antifosfolipidový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CAPS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Catastrophic APS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CAPS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Catastrophic APS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Katastrofický APS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464336","display":"BENTA disease","definition":"A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"BENTA nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"B-cell expansion with NF-kB and T-cell anergy disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"B-cell expansion with NF-kB and T-cell anergy disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Expanze B-buněk s NF-kB a nemocí z anergie T-buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464453","display":"Acquired methemoglobinemia","definition":"A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaná methemoglobinémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Drug-induced methemoglobinemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Drug-induced methemoglobinemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Methemoglobinémie vyvolaná léky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464443","display":"COG6-CGD","definition":"A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"COG6-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG2L"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 2l"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type IIL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type IIL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-IIL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG2L"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-IIL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrome type IIL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital disorder of glycosylation type 2l"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital disorder of glycosylation type IIL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrom typ IIL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace typ 2l"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace typ IIL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464440","display":"Primary dystonia, DYT27 type","definition":"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární dystonie, typ DYT27"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464370","display":"Neonatal alloimmune neutropenia","definition":"A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neonatální aloimunní neutropenie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464463","display":"NON RARE IN EUROPE: Adenocarcinoma of stomach","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Adenokarcinom žaludku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Gastric adenocarcinoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464463"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"464458","display":"Paracetamol poisoning","definition":"A rare intoxication due to a medical product occurring as a result of accidental or intentional overdosing of paracetamol (acetaminophen). Patients may develop gastroenteritis within hours and hepatotoxicity within 24 to 72 hours after ingestion, potentially leading to acute liver injury and liver failure. Possible non-hepatic sequelae include renal failure, thrombocytopenia, pancreatitis, and subendocardial myocyte necrosis. 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Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. 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Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. 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More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. 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Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hereditární senzorickou neuropatii, hluchotu a demenci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN1E"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSN1E"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN1E"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSN1E"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hereditární senzorickou neuropatii, senzorineurální ztrátu sluchu a demenci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454840","display":"NTHL1-related polyposis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NTHL1-vázaná atenuovaná familiární adenomatózní polypóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NTHL1-related adenomatous polyposis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NTHL1-vázaná AFAP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454872","display":"OBSOLETE: Type 1 interferonopathy with immunodeficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Interferonopatie, typ 1, s imunodeficitem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454872"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"169361"}]},{"code":"454831","display":"Acute radiation syndrome","definition":"A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní syndrom z ozáření"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute radiation sickness"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní radiační syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454831"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454836","display":"Avian influenza","definition":"A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ptačí chřipka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454887","display":"Corticobasal syndrome","definition":"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kortikobazální syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454742","display":"Variably protease-sensitive prionopathy","definition":"A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. 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Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endometroidní karcinom ovaria"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454718","display":"Holmes-Adie syndrome","definition":"A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Holmsův-Adieho syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adie syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Tonic pupil-tendon areflexia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adieho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Holms-Adieho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454714","display":"Plasma cell leukemia","definition":"A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plazmocelulární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PCL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454821","display":"OBSOLETE: Pleomorphic salivary gland adenoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Pleomorfní adenom slinných žláz"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454821"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"276148"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"276148"}]},{"code":"454750","display":"Isolated tracheoesophageal fistula","definition":"A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná tracheoezofageální píštěl"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"H-type tracheoesophageal fistula"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454745","display":"Kuru","definition":"A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. There have been no further description in the literature since 2004.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kuru"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"453533","display":"Polyendocrine-polyneuropathy syndrome","definition":"A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polyendokrinní-polyneuropatický syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"453521","display":"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency","definition":"A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní cerebelární ataxie způsobená deficitem CWF19L1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAR17"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spinocerebellar ataxia autosomal recessive type 17"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAR17"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spinocerebelární ataxie, autozomálně recesivní, typ 17"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454710","display":"Anti-p200 pemphigoid","definition":"A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anti-p200 pemfigoid"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454706","display":"Progressive muscular atrophy","definition":"A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní svalová atrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PMA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"454700","display":"Acquired Creutzfeldt-Jakob disease","definition":"A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaná Creutzfeldtova-Jakobova choroba"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Získaná Creutzfeldt-Jakobova choroba"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"451602","display":"Primary cutaneous plasmacytosis","definition":"A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní plazmocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"451607","display":"Cutaneous pseudolymphoma","definition":"A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kožní pseudolymfomy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"451612","display":"Familial congenital nasolacrimal duct obstruction","definition":"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární vrozená obstrukce ductus nasolacrimalis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"453499","display":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující neurovývojovou poruchu, kraniofaciální dysmorfismus, srdeční vady a kyčelní dysplázii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Au-Kline syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HNRNPK-related neurodevelopmental disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Okamoto syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"453504","display":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující neurovývojovou poruchu, kraniofaciální dysmorfismus, srdeční vady a kyčelní dysplázii, způsobený bodovými mutacemi"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Auův-Klinové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Au-Klinové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"453499"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"453510","display":"Congenital insensitivity to pain with severe intellectual disability","definition":"Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená necitlivost pro bolest s těžkou mentální retardací"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital absence of pain with severe intellectual disability"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital analgesia with severe intellectual disability"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital insensitivity to pain with preserved temperature sensation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital insensitivity to pain with severe non-progressive cognitive delay"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená necitlivost pro bolest se zachovanou citlivostí pro teplo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená absence bolesti s těžkou mentální retardací"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená analgezie s těžkou mentální retardací"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená necitlivost pro bolest s těžkým neprogresivním kognitivním opožděním"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"450322","display":"Polyclonal hyperviscosity syndrome","definition":"A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polyklonální hyperviskózní syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"449566","display":"Eosinophilic angiocentric fibrosis","definition":"A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Eosinofilní angiocentrická fibróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IgG4-related eosinophilic angiocentric fibrosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IgG4 asociovaná eosinofilní angiocentrická fibróza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"449563","display":"IgG4-related ophthalmic disease","definition":"A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IgG4 asociované postižení očí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"596448"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"449291","display":"OBSOLETE: Symptomatic form of fragile X syndrome in female carriers","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Symptomatická forma fragilního X u žen přenašeček"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"908"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"908"}]},{"code":"449400","display":"IgG4-related aortitis","definition":"A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IgG4 asociovaná aortitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IgG4 asociovaná periaortitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"596448"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"449395","display":"IgG4-related kidney disease","definition":"A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IgG4 asociované postižení ledvin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"596448"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"449432","display":"IgG4-related submandibular gland disease","definition":"A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IgG4 asociované postižení submandibulární slinné žlázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Küttner tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IgG4 asociovaná sialoadenitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Küttnerův nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"596448"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"449427","display":"IgG4-related pachymeningitis","definition":"A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IgG4 asociovaná pachymeningitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic hypertrophic pachymeningitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická hypertrofická pachymeningitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"596448"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"449280","display":"Scedosporiosis","definition":"A rare mycosis caused by <i>Scedosporium</i> species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Scedosporióza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449280"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"449285","display":"Snakebite envenomation","definition":"A rare disorder due to poisoning caused by toxins in the bite of a venomous snake. Envenoming can also be caused by spraying of venom into the eyes. Depending on venom composition and other factors, consequences range from local tissue damage to potentially life-threatening systemic effects. Severe manifestations include paralysis, bleeding disorders, kidney failure, or permanent disability and limb amputation due to severe local tissue destruction. Children may suffer more severe effects because of their lower body mass. Immediate medical attention, in particular administration of antivenom, is critical.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otrava hadím uštknutím"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449285"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"449266","display":"Pleural empyema","definition":"A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pleurální empyém"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or 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Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná fokální non-epidermolytická palmoplantární keratoderma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"448251","display":"Progressive autosomal recessive ataxia-deafness syndrome","definition":"A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. 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The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ectopia cordis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Extrathoracic heart"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"448267","display":"Regressive spondylometaphyseal dysplasia","definition":"A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Regresivní spondylometafyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"448010","display":"CAD-CDG","definition":"A rare congenital disorder of glycosylation caused by mutations in the <i>CAD</i> gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. 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Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. 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have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Běžné cystické lymfatické malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Common cystic lymphatic malformation"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458844","display":"Rare vascular malformation of major vessels","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné vaskulární malformace postihující velké cévy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458844"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"458841","display":"OBSOLETE: Primary lymphedema with associated anomalies","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Primární lymfedém s asociovanými anomáliemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458841"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"459033","display":"Ataxia-oculomotor apraxia type 4","definition":"A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ataxie a okulomotorická apraxie, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AOA4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AOA4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"459051","display":"Spondyloepiphyseal dysplasia, Stanescu type","definition":"A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepifyzární dysplázie, typ Stanescuových"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SED, Stanescu type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SED, typ Stanescu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"459061","display":"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome","definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kraniofaciální dysmorfismus, malý vzrůst, anomálie ektodermu a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Developmental delay-short stature-dysmorphic features-sparse hair syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Loucks-Innes syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"459056","display":"Autosomal recessive spastic paraplegia type 75","definition":"A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 75"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG75"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG75"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"459074","display":"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující agenezi corpus callosum, makrocefalii a hypertelorismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"7q36.3 microduplication syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(7)(q36.3)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikroduplikační syndrom 7q36.3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"459070","display":"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, cerebelární hypoplázie a spondyloepifyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RPL10-related neurodevelopmental disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RPL10-related X-linked intellectual disability"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458713","display":"NON RARE IN EUROPE: Specific language impairment","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Specifické jazykové postižení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458713"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458718","display":"Idiopathic spontaneous coronary artery dissection","definition":"A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická spontánní disekce koronární artérie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic SCAD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická SCAD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458758","display":"Composite hemangioendothelioma","definition":"A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Složený hemangioendoteliom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Polymorphous hemangioendothelioma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458763","display":"Retiform hemangioendothelioma","definition":"A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Retiformní hemangioendoteliom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458768","display":"Papillary intralymphatic angioendothelioma","definition":"A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární intralymfatický angioendoteliom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dabska tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PILA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary intralymphatic angioendothelioma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dabské tumor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458775","display":"Congenital hemangioma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený hemangiom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital haemangioma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Haemangioma congénitale"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"458785","display":"Partially involuting congenital hemangioma","definition":"A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Částečně involující vrozený hemangiom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partially involuting congenital haemangioma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458792","display":"Mixed macro and microcystic lymphatic malformation","definition":"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Smíšená cystická lymfatická malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mixed cystic lymphangioma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Smíšený cystický lymfangiom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"458833"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"458798","display":"Spinocerebellar ataxia type 41","definition":"Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 41"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA41"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA41"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458803","display":"Spinocerebellar ataxia type 42","definition":"A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 42"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA42"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA42"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"458827","display":"OBSOLETE: Vascular tumor with associated anomalies","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Vaskulární nádory s asociovanými anomáliemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458827"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"211237"}]},{"code":"458830","display":"Rare capillary malformation with associated anomalies","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná kapilární malformace s asociovanými anomáliemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458830"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"457485","display":"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující makrocefalii, mentální retardaci, neurovývojové poruchy a malý hrudník"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MINDS syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Smith-Kingsmore syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MINDS syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457265","display":"Progressive myoclonic epilepsy type 9","definition":"A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní myoklonická epilepsie, typ 9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PME type 9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Progressive myoclonic epilepsy due to LMNB2 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Progressive myoclonus epilepsy type 9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EPM9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EPM9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PME typ 9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Progresivní myoklonická epilepsie způsobená deficiencí LMNB2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457279","display":"Houge-Janssens syndrome type 1","definition":"A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, makrocefalii, hypotonii a poruchy chování"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPP2R5D-related Houge-Janssens syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPP2R5D-related neurodevelopmental disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HJS1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"726644"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"457252","display":"Squamous cell carcinoma of the oral tongue","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom těla jazyka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OTSCC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oral tongue squamous cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OTSCC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Skvamocelulární karcinom orální části jazyka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457252"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"502363"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"502363"}]},{"code":"457260","display":"X-linked intellectual disability-hypotonia-movement disorder syndrome","definition":"A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující X-vázanou mentální retardaci, hypotonii a poruchy hybnosti"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457240","display":"X-linked intellectual disability-short stature-overweight syndrome","definition":"X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující X-vázanou mentální retardaci, malý vzrůst a nadváhu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457246","display":"Clear cell sarcoma of kidney","definition":"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Světlobuněčný sarkom ledviny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CCSK"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CCSK"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457395","display":"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující progresivní spondyloepimetafyzární dysplázii, malý vzrůst, krátké čtvrté metatarzy a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457406","display":"Multiple mitochondrial dysfunctions syndrome type 4","definition":"A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom fatálních mnohočetných mitochondriálních dysfunkcí, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMDS4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457375","display":"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement","definition":"A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ITPA-vázaná encefalopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Martsolf-like syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457378","display":"Complex lethal osteochondrodysplasia","definition":"A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Komplexní letální osteochondrodysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Komplex letální osteochondrodysplázie, Symoensové-Barnesův-Gistelinckové typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Komplex letální osteochondrodysplázie, Symoens-Barnes-Gistelinckové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457359","display":"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující megalencefalii, těžkou kyfoskoliózu a nadměrný růst"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457365","display":"Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, svalovou slabost, malý vzrůst a faciální dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457284","display":"Houge-Janssens syndrome type 2","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, hypoplázii corpus callosum, mentální retardaci a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HJS2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPP2R1A-related neurodevelopmental disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPP2R1A-related Houge-Janssens syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"726644"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"457351","display":"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","definition":"A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, mentální retardaci, senzorineurální ztrátu sluchu, epilepsii a abnormální svalový tonus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mikrocefalii, mentální retardaci, senzorineurální hluchotu, epilepsii a abnormální svalový tonus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457185","display":"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome","definition":"A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neonatální encefalomyopatie, kardiomyopatie a syndrom respirační tísně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COQ4-related neonatal encephalomyopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COQ4-vázaná neonatální encefalomyopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457083","display":"Isolated splenogonadal fusion","definition":"A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná splenogonadální fúze"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SGF"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SGF"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457077","display":"TAFRO syndrome","definition":"A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"TARFO syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující trombocytopenii, anasarku, horečku, renální insuficienci a organomegalii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457095","display":"Actinomycosis","definition":"A rare bacterial infectious disease characterized by a chronic granulomatous infection by <i>Actinomyces</i> species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aktinomykóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457095"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457088","display":"Predisposition to invasive fungal disease due to CARD9 deficiency","definition":"A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Predispozice k invazivním mykotickým onemocněním způsobená deficitem CARD9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Invasive candidiasis-deep dermatophytosis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující invazivní kandidózu a hlubokou dermatofytózu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457223","display":"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect","definition":"A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndromická senzorineurální hluchota způsobená kombinovým deficitem oxidativní fosforylace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndromic sensorineural deafness due to COXPD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndromic sensorineural hearing loss due to COXPD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndromická senzorineurální hluchota způsobená COXPD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndromická senzorineurální ztráta sluchu způsobená COXPD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457212","display":"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome","definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující progresivní esenciální třes, poruchy řeči, faciální dysmorfismus, mentální retardaci a poruchy chování"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457193","display":"KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome","definition":"A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující autozomálně dominantní mentální retardaci, kraniofaciální anomálie a srdeční vady"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arboleda-Tham syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KAT6A syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"457205","display":"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome","definition":"A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. 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Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. 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In severe cases following inhalation, signs of hyperventilation appear within seconds or minutes and are followed by loss of consciousness with convulsions and ultimately cardiovascular collapse and/or respiratory arrest. 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Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zátěžová maligní hypertermie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Exertional heat stroke"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Exertional heat stroke"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Úpal z námahy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466962","display":"SMARCA4-deficient sarcoma of thorax","definition":"A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. 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Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom WAC asociovaného faciálního dysmorfismu, opožděného vývoje a behaviorální abnormalit"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DESSH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Desanto-Shinawi syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466926","display":"Seizures-scoliosis-macrocephaly syndrome","definition":"Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující křeče, skoliózu a makrocefalii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SSM syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SSM syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SSM syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466934","display":"VPS11-related autosomal recessive hypomyelinating leukodystrophy","definition":"A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"VPS11 asociovaná autozomálně recesivní hypomyelinizační leukodystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VPS11-related autosomal recessive hypomyelinating leukoencephalopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"VPS11-related autosomal recessive hypomyelinating leukoencephalopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní hypomyelinizační leukoencefalopatie související s VPS11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466921","display":"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome","definition":"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom progresivních kontraktur s nástupem v dětském věku, slabosti pletencových svalů a svalové dystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466806","display":"Autosomal dominant thrombocytopenia with platelet secretion defect","definition":"A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní trombocytopenie s poruchou sekrece destiček"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466801","display":"OBSOLETE: LIMS2-related myopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: LIMS2-asociovaná svalová dystrofie pletencového typu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: LGMD2W"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466801"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"206644"}]},{"code":"466794","display":"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom akutního dětského jaterního selhání, cerebelární ataxie a periferní senzorimotorické neuropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spinocerebellar ataxia type 21"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAR21"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAR21"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autosomal recessive spinocerebellar ataxia type 21"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní spinocerebelární ataxie typu 21"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466791","display":"Macrocephaly-intellectual disability-left ventricular non compaction syndrome","definition":"Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom makrocefalie, intelektové nedostatečnosti a nekompaktní levé komory"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466784","display":"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect","definition":"A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neonatální závažné kardiopulmonální selhání z důvodu defektu mitochondriální metylace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD28"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined oxidative phosphorylation defect type 28"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD28"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Combined oxidative phosphorylation defect type 28"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kombinovaný defekt oxidativní fosforylace typu 28"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466775","display":"Autosomal recessive Charcot-Marie-Tooth disease type 2X","definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2X"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2X"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ARCMT2X"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2X"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ARCMT2X"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní Charcot-Marie-Toothova choroba typu 2 způsobená mutací SPG11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466768","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2Z","definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2Z"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2Z"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2Z"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní Charcot-Marie-Toothova choroba typu 2 způsobená mutací MORC2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466732","display":"OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující smrtelnou brachymelii, polycystickou chorobu ledvin a vrozenou srdeční vadu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466732"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"79328"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"79328"}]},{"code":"466729","display":"Familial patent arterial duct","definition":"Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičná otevřená Botallova dučej"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466722","display":"Autosomal recessive spastic paraplegia type 77","definition":"Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 77"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG77"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG77"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466718","display":"Martinique crinkled retinal pigment epitheliopathy","definition":"A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zvrásněná pigmentová epitelopatie sítnice ostrova Martinik"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MCRPE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MCRPE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466703","display":"TMEM199-CDG","definition":"A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"TMEM199-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type IIp"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-IIp"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG2P"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbohydrate deficient glycoprotein syndrome type IIp"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 2p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG2P"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrome type IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital disorder of glycosylation type 2p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital disorder of glycosylation type IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Carbohydrate deficient glycoprotein syndrome type IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrom typ IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace typ 2p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace typ IIp"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Glykoproteinový syndrom deficitu sacharidů typu IIp"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"465824","display":"Fetal encasement syndrome","definition":"Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zapouzdření plodu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"466084","display":"Genetic otorhinolaryngologic disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Geneticky podmíněné otolaryngologické onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466084"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"466066","display":"Genetic hemoglobinopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Geneticky podmíněná hemoglobinopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466066"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"466026","display":"Class I glucose-6-phosphate dehydrogenase deficiency","definition":"A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit glukóza-6-fosfát dehydrogenázy, třída I"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Class I G6PD deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe hemolytic anemia due to G6PD deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Class I G6PD deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Severe hemolytic anemia due to G6PD deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit G6PD třída I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžká hemolytická anémie způsobená deficitem G6PD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468620","display":"Intellectual disability-epilepsy-extrapyramidal syndrome","definition":"A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, epilepsii a extrapyramidové symptomy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468631","display":"Microcephalic cortical malformations-short stature due to RTTN deficiency","definition":"A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primordiální nanismus s mikrocefalií v důsledku deficitu RTTN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"467166","display":"Tubulinopathy-associated dysgyria","definition":"A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysgyrie asociovaná s tubulunopatií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující asymetrii mozkového kmene, dysplázii předního mozečku a bazálních ganglií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"467176","display":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome","definition":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom těžké hypotonie, psychomotorického opoždění, strabismu a defektu komorového septa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468635","display":"Cryptogenic multifocal ulcerous stenosing enteritis","definition":"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kryptogenní multifokální ulcerózní stenozující enteritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMUSE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMUSE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468641","display":"Chronic enteropathy associated with SLCO2A1 gene","definition":"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická enteropatie asociovaná s genem SLCO2A1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CEAS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CEAS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468661","display":"Autosomal recessive spastic paraplegia type 74","definition":"Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 74"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG74"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG74"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468666","display":"Isolated generalized anhidrosis with normal sweat glands","definition":"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná generalizovaná anhidróza s normálními potními žlázami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468678","display":"White-Sutton syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální postižení, mikrocefalii, strabismus a poruchy chování"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468684","display":"CCDC115-CDG","definition":"A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CCDC115-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type IIo"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-IIo"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG2O"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbohydrate deficient glycoprotein syndrome type IIo"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 2o"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG2O"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrome type IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital disorder of glycosylation type 2o"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital disorder of glycosylation type IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Carbohydrate deficient glycoprotein syndrome type IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrom typ IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace typ 2o"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace typ IIo"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Glykoproteinový syndrom deficitu sacharidů typu IIo"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"468672","display":"Colobomatous macrophthalmia-microcornea syndrome","definition":"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. 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Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální myopatie s extrapyramidovými příznaky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401764","display":"Pancytopenia-developmental delay syndrome","definition":"A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. 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Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. 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Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 71"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG71"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG71"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401805","display":"Autosomal recessive spastic paraplegia type 63","definition":"Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the <i>AMPD2</i> gene (1p13.3) encoding AMP deaminase 2.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 63"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG63"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG63"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401810","display":"Autosomal recessive spastic paraplegia type 64","definition":"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the <i>ENTPD1</i> gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 64"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG64"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG64"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401815","display":"Autosomal recessive spastic paraplegia type 66","definition":"A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 66"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG66"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG66"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401820","display":"Autosomal recessive spastic paraplegia type 67","definition":"Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 67"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG67"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG67"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401866","display":"Childhood-onset spasticity with hyperglycinemia","definition":"Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spasticitu, ataxii a anomálie chůze"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Childhood-onset spasticity with variant non-ketotic hyperglycinemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spasticity-ataxia-gait anomalies syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401869","display":"Multiple mitochondrial dysfunctions syndrome type 1","definition":"A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom fatálních mnohočetných mitochondriálních dysfunkcí, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMDS1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NFU1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit NFU1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401874","display":"Multiple mitochondrial dysfunctions syndrome type 2","definition":"A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. 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Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epizodická ataxie se setřelou řečí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Episodic ataxia type 8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Epizodická ataxie, typ 8"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401948","display":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","definition":"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hyperamonemická encefalopatie způsobená deficitem VA karbonyl dehydrogenázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CA-VA deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CA-VA deficit"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401945","display":"Moyamoya disease with early-onset achalasia","definition":"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nemoc Moya-moya s achalázií s časným nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401986","display":"1p31p32 microdeletion syndrome","definition":"1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrodeleční syndrom 1p31p32"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(1)(p31p32)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 1p31p32"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(1)(p31p32)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 1p31p32"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401979","display":"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type","definition":"A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spondylometafyzární dysplázie, Mégarbanéův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401973","display":"MEND syndrome","definition":"A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MEND syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Male EBP disorder with neurological defects"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mužská EBP porucha s neurologickými defekty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401964","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons","definition":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2 s obrovskými axony"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2 with giant axons"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HMSN2 with giant axons"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2 s obrovskými axony"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HMSN2 s obrovskými axony"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní hereditární motorická a senzorická neuropatie, typ 2 s obrovskými axony"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2 s obrovskými axony"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402003","display":"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering","definition":"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantně dědičná fokální non-epidermolytická palmoplantární keratoderma s plantárními puchýři"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402007","display":"Lichen myxedematosus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lichen myxedematosus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402007"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"401993","display":"Cold-induced sweating syndrome-hyperthermia spectrum","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spektrum zahrnující chladem indukovaný syndrom nadměrného pocení a hypertermii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401993"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"401996","display":"Karyomegalic interstitial nephritis","definition":"A rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karyomegalická intersticiální nefritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KIN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Systemic karyomegaly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KIN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Systémová karyomegalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402017","display":"Acute myeloid leukemia with t(9;11)(p22;q23)","definition":"A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie s t(9;11)(p22;q23)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with t(9;11)(p22;q23)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML s t(9;11)(p22;q23)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402020","display":"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)","definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). 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Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie s t(6;9)(p23;q34)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with t(6;9)(p23;q34)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML s t(6;9)(p23;q34)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402029","display":"Primary eosinophilic gastrointestinal disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární eosinofilní gastrointestinální nemoci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EGID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EGID"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402029"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"402035","display":"Eosinophilic colitis","definition":"A rare gastroenterologic disease characterized by extensive eosinophilic infiltration of the colon in the absence of any known cause of secondary intestinal eosinophilia. Patients present with abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, malabsorption, and/or weight loss. Symptoms do not correlate with the extent of the disease, which can be segmental or pancolonic. Blood testing may show peripheral eosinophilia. The condition has a bimodal age distribution, with a first peak in neonates and a second peak in young adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Eosinofilní kolitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402023","display":"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)","definition":"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie megakaryoblastická s t(1;22)(p13;q13)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Megakaryoblastic AML with t(1;22)(p13;q13)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Megakaryoblastická AML s t(1,22)(p13;q13)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402026","display":"Acute myeloid leukemia with NPM1 somatic mutations","definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the <i>NPM1</i> gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie se somatickými mutacemi v genu NPM1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with NPM1 somatic mutations"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML se somatickými mutacemi v genu NPM1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402082","display":"Progressive myoclonic epilepsy type 5","definition":"A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní myoklonická epilepsie, typ 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EPM5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PME type 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Progressive myoclonus epilepsy type 5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EPM5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PME typ 5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402364","display":"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly","definition":"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infantilní cerebrální a cerebelární atrofie s postnatální progresivní mikrocefalií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"402041","display":"Autosomal recessive distal renal tubular acidosis","definition":"A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní distální renální tubulární acidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AR dRTA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive distal RTA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AR dRTA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní distální RTA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"18"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"402075","display":"Familial bicuspid aortic valve","definition":"Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární bikuspidální aortální chlopeň"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial BAV"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"806","display":"Scott syndrome","definition":"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Scottův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"404580","display":"Polyarticular juvenile idiopathic arthritis","definition":"A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Juvenilní polyartritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile polyarthritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile polyarticular arthritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Polyarticular JIA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Juvenilní polyartikulární artritida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"404584","display":"Rare genetic bone development disorder","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné genetické poruchy kostního vývoje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare genetic skeletal development disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vzácné genetické poruchy kosterního vývoje"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404584"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"404469","display":"Rare female infertility due to oocyte maturation defect","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ženská neplodnost způsobená poruchami fertilizace"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ženská neplodnost způsobená poruchami oplodnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404469"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"404473","display":"Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mentální retardaci a progresivní spastickou diplegii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CTNNB1 syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CTNNB1-NDD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CTNNB1-related neurodevelopmental disorder"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"404463","display":"Multisystemic smooth muscle dysfunction syndrome","definition":"A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Multisystémové postižení s dysfunkcí hladké svaloviny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"404466","display":"Female infertility due to zona pellucida defect","definition":"Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ženská neplodnost způsobená defektem zona pellucida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"404451","display":"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome","definition":"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a <i> FLBN1 </i> gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"FBLN1-vázaný syndrom zahrnující opožděný vývoj, anomálie centrálního nervového systému a syndaktylii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"404454","display":"Alacrimia-choreoathetosis-liver dysfunction syndrome","definition":"A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující alakrimii, choreoatetózu a dysfukci jater"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NGLY1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NGLY1-CDDG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit NGLY1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NGLY1-CDDG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"404443","display":"Tatton-Brown-Rahman syndrome","definition":"A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). 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Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. 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The defect is mostly present between the fourth and sixth order bronchial divisions. 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Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární syndrom epizodických bolestí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FEPS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FEPS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391389","display":"Familial episodic pain syndrome with predominantly upper body involvement","definition":"A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární syndrom epizodických bolestí s predominantním postižením horní poloviny těla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"391384"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"391392","display":"Familial episodic pain syndrome with predominantly lower limb involvement","definition":"A subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární syndrom epizodických bolestí s predominantním postižením dolní končetiny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"391384"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"391397","display":"Hereditary sensory and autonomic neuropathy type 7","definition":"A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární senzorická a autonomní neuropatie, typ 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CIP with hyperhidrosis and gastrointestinal dysfunction"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN with hyperhidrosis and gastrointestinal dysfunction"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary sensory and autonomic neuropathy type VII"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená necitlivost na bolest s hyperhidrózou a gastrointestinální dysfunkcí"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN s hyperhidrózou a gastrointestinální dysfunkcí"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN7"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární senzorická a autonomní neuropatie s hyperhidrózou a gastrointestinální dysfunkcí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391408","display":"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující primární mikrocefalii, mírnou mentální retardaci a diabetes s nástupem v mládí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391411","display":"Atypical juvenile parkinsonism","definition":"A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atypický juvenilní parkinsonismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391417","display":"HSD10 disease","definition":"HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methyl-3-hydroxybutyric aciduria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSD10 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MHBD deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"2-methyl-3-hydroxymáselná acidurie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit HSD10"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit MHBD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391428","display":"HSD10 disease, infantile type","definition":"A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, infantilní typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methyl-3-hydroxybutyric aciduria, classic type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methyl-3-hydroxybutyric aciduria, infantile type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSD10 deficiency, classic type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSD10 deficiency, infantile type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSD10 disease, classic type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MHBD deficiency, classic type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MHBD deficiency, infantile type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"2-methyl-3-hydroxymáselná acidurie, klasický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"2-methyl-3-hydroxymáselná acidurie, infantilní typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, klasický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit 2-methyl-3-hydroxybutyryl-CoA deyhdrogenázy, infantilní typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSD10 deficit, klasický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSD10 deficit, infantilní typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit MHBD, klasický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit MHBD, infantilní typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"391417"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"391457","display":"HSD10 disease, neonatal type","definition":"HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. 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Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mentální retardaci, malý vzrůst, poruchy chování a faciální dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391316","display":"TNK2-related epilepsy with severe cognitive regression","definition":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epilepsie meziotemporálního laloku s nástupem u kojenců, s těžkou kognitivní regresí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391311","display":"Susceptibility to viral and mycobacterial infections due to STAT1 deficiency","definition":"A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vnímavost k virovým a mykobakteriálním infekcím"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Predisposition to severe viral infection due to STAT1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"STAT1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"STAT1 deficit"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391327","display":"X-linked calvarial hyperostosis","definition":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná hyperostóza lebky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"391320","display":"East Texas bleeding disorder","definition":"East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"East Texas krvácivá porucha"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FV East Texas bleeding disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Factor V East Texas bleeding disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Východotexaská krvácivá porucha"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"599519"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"391330","display":"X-linked osteoporosis with fractures","definition":"A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná osteoporóza s frakturami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"398063","display":"Refractory celiac disease","definition":"Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Refrakterní celiakie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Refractory CD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Refractory sprue"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Refrakterní CD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Refrakterní sprue"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"398058","display":"Squamous cell carcinoma of the penis","definition":"A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Skvamocelulární karcinom penisu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Penile squamous cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Penilní skvamocelulární karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"398053","display":"Adenocarcinoma of the penis","definition":"An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenokarcinom penisu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Penile adenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Penilní adenokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"398043","display":"Malignant tumor of penis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maligní nádor penisu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cancer of penis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Malignant penile tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Penile cancer"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Zhoubný nádor penisu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maligní penilní nádor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Penilní zhoubný nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"397973","display":"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome","definition":"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, obezitu, prognácii a anomálie očí a kůže"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MOMES syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MOMES syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397968","display":"Charcot-Marie-Tooth disease type 2R","definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Charcotova-Marieova-Toothova nemoc, typ 2R"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2R"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2R"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Charcot-Marie-Toothova nemoc, typ 2R"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397964","display":"Combined immunodeficiency due to MALT1 deficiency","definition":"Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná imunodeficience způsobená deficitem MALT1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397959","display":"TCR-alpha-beta-positive T-cell deficiency","definition":"A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"TCR-alfa-beta-pozitivní T-buněčný deficit"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TCR-alpha-beta+ T-cell deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TCR-alfa-beta+ T-buněčný deficit"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397951","display":"Microcephaly-thin corpus callosum-intellectual disability syndrome","definition":"A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, tenké corpus callosum a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397946","display":"Autosomal spastic paraplegia type 58","definition":"A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 58"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal spastic ataxia type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPAX2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG58"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG58"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397941","display":"MAN1B1-CDG","definition":"MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene <i>MAN1B1</i> (9q34.3).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MAN1B1-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type II due to MAN1B1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual disability-truncal obesity syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mentální retardaci a trunkální obezitu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397937","display":"Polyglucosan body myopathy type 1","definition":"Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myopatie s polyglukanovými tělísky, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PGBM1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PGBM1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397933","display":"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome","definition":"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mentální retardaci, progresivní postnatální mikrocefalii a stereotypní pohyby rukou ve střední čáře"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IQSEC2-related syndromic intellectual disability"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397927","display":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome","definition":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. 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The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neurodegenerace asociovaná COASY proteinem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CoPAN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NBIA6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neurodegeneration with brain iron accumulation due to COASY mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CoPAN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NBIA6"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neurodegenerace s akumulací železa v mozku, způsobená mutacemi v genu COASY"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397735","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2U","definition":"A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. 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Sensorineural hearing loss may be associated. 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Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární hyperprolaktinémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial isolated prolactin receptor deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární izolovaný deficit prolaktinového receptoru"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397615","display":"Obesity due to CEP19 deficiency","definition":"A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Obezita způsobená deficitem CEP19"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"98267"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"397618","display":"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome","definition":"A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující foveální hypoplázii, defekt decussatio nervi optici a dysgeneze předního segmentu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FHONDA syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FHONDA syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397596","display":"Activated PI3K-delta syndrome","definition":"A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom aktivované PI3K-delta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"APDS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Activated p110-delta syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PASLI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"APDS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující stárnoucí T-buňky, lymfadenopatii a imunodeficienci, způsobený mutací aktivovanou p110delta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"397593","display":"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency","definition":"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká neonatální laktátová acidóza způsobená deficitem komplexu NFS1-ISD11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397612","display":"Macrocephaly-developmental delay syndrome","definition":"Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující makrocefalii a opožděný vývoj"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397606","display":"PrP systemic amyloidosis","definition":"A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PrP systémová amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic diarrhea with HSAN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic diarrhea with hereditary sensory and autonomic neuropathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Prion protein systemic amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Prionovo proteinová systémová amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronický průjem s HSAN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronický průjem s dědičnou senzorickou a autonomní neuropatií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"397590","display":"Silver-Russell syndrome due to a point mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Silverův-Russellův syndrom způsobený bodovými mutacemi"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Silver-Russellův syndrom způsobený bodovými mutacemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"813"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"397587","display":"Deep dermatophytosis","definition":"A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. 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Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epifyzeolýza kyčle"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Slipped upper femoral epiphysis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epiphysiolysis of the upper femur"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Femoral head 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Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární netraumatická avaskulární nekróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary non-traumatic AVN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary non-traumatic osteonecrosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární netraumatická AVN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"399185","display":"Rare hereditary disease with avascular necrosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná dědičná onemocnění s avaskulární nekrózou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"399169","display":"Secondary avascular necrosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární avaskulární nekróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary AVN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární AVN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"399175","display":"Traumatic avascular necrosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Potraumatická avaskulární nekróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Traumatic AVN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Potraumatická AVN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"399307","display":"Idiopathic avascular necrosis","definition":"A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. 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Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Osteonekróza čelisti"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"399302","display":"Primary avascular necrosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární avaskulární nekróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary AVN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární AVN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399302"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"399058","display":"Alpha-B crystallin-related late-onset myopathy","definition":"A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální myopatie s pozdním nástupem související s alfa-B krystalinem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Alpha-B crystallin-related late-onset distal myopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Late-onset distal crystallinopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální krystalinopatie s pozdním nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"398987","display":"Malignant teratoma of ovary","definition":"A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maligní teratom vaječníku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immature teratoma of ovary"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian immature teratoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian malignant teratoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ovariální nezralý teratom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ovariální maligní teratom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nezralý teratom vaječníku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"399086","display":"HNRNPA1-related adult-onset distal myopathy","definition":"Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Finská distální myopatie s nástupem na horních končetinách"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal myopathy type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Finnish upper limb-onset distal myopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MPD3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální myopatie, typ 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MPD3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"399081","display":"KLHL9-related early-onset distal myopathy","definition":"KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"KLHL9-vázaná distální myopatie s nástupem v dětském věku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"399103","display":"Autosomal recessive distal nebulin myopathy","definition":"Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální nebulin vázaná myopatie s časným nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nebulin-related early-onset distal 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kinase (CK) serum levels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální anoktaminopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MMD3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Miyoshi muscular dystrophy type 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MMD3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Miyoshiho svalová dystrofie, typ 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Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mucinózní adenokarcinom ovaria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian mucinous adenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ovariální mucinózní adenokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"398940","display":"Malignant non-epithelial tumor of ovary","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maligní neepiteliální nádory ovaria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-epithelial cancer of ovary"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian malignant non-epithelial tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian non-epithelial cancer"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ovariální maligní non-epiteliální nádor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ovariální neepiteliální zhoubné nádory"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neepiteliální zhoubné nádory vaječníku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"398980","display":"OBSOLETE: Primary peritoneal serous/papillary carcinoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Primární peritoneální serózní papilární karcinom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: PPSPC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: PPSPC"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398980"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"168829"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"168829"}]},{"code":"398971","display":"Clear cell adenocarcinoma of the ovary","definition":"A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. 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The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. 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Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"LIPE-vázaná familiární parciální lipodystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FPLD6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LIPE-related FPLD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FPLD6"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LIPE-vázaná FPLD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435651","display":"CIDEC-related familial partial lipodystrophy","definition":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CIDEC-vázaná familiární parciální lipodystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CIDEC-related FPLD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FPLD5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CIDEC-vázaná FPLD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435638","display":"Proximal 3p25.3 microdeletion syndrome","definition":"3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrodeleční syndrom 3p25.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual disability-epilepsy-stereotypic hand movement syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Proximal del(3)p(25.3) syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Proximal monosomy 3p25.3 syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(3)p(25.3)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mentální retardaci, epilepsii a stereotypní pohyby rukou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 3p25.3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435804","display":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","definition":"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující malý vzrůst, urychlený kostní věk a osteoartrózu s časným nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435808","display":"OBSOLETE: ACAN-related skeletal dysplasia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: ACAN-vázaná skeletální dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435808"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"674499"}]},{"code":"435845","display":"Lethal neonatal spasticity-epileptic encephalopathy syndrome","definition":"A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning <i>in utero</i>. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující letální neonatální spasticitu a epileptickou encefalopatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lethal neonatal rigidity-multifocal seizure syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující letální neonatální rigiditu a multifokální záchvaty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435930","display":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","definition":"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kolobomatózní discus opticus, makulární atrofii a chorioretinopatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435819","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi v TFG genu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2 due to TFG mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2 způsobená mutacemi v TFG genu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi v TFG genu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435953","display":"Progeroid features-hepatocellular carcinoma predisposition syndrome","definition":"A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. 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Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"COG2-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COG2-related congenital disorder of glycosylation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COG2-vázaná vrozená porucha glykosylace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"435938","display":"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome","definition":"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující X-vázanou mikrocefalii, růstovou retardaci, prognácii a kryptorchismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436141","display":"HIDEA syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mentální retardaci, hypotonii, strabismus, hrubé faciální rysy a pes planovalgus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436144","display":"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","definition":"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. 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Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kontraktury, opožděný vývoj a Pierre Robinův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"5q23 microdeletion syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikrodeleční syndrom 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brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoimunitní lymfoproliferativní syndrom způsobený CTLA4 haploinsuficiencí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ALPS due to CTLA4 haploinsuffiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CHAI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CTLA-4 haploinsufficiency with autoimmune infiltration disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ALPS, typ 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reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Thrombomodulin-vázaná krvácivá porucha"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"THBD-related bleeding disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"THBD-related coagulopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thrombomodulin-related coagulopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"THBD-vázané krvácivé stavy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"THBD-vázaná koagulopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Koagulopatie související s trombomodulinem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436166","display":"Periodic fever-infantile enterocolitis-autoinflammatory syndrome","definition":"A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. 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Mild global learning difficulties and acanthosis nigricans have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující primordiální trpaslictví, mikrocefalii a inzulinovou rezistenci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436174","display":"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","definition":"A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. 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Age of onset ranges between childhood and adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární atriální tachyarytmie a infrahisální porucha vedení"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární síňová tachyarytmie a infrahisální porucha vedení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436271","display":"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy","definition":"A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neprogresivní predominantně posteriorní kavitující leukoencefalopatie s periferní neuropatií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436252","display":"Combined immunodeficiency-multiple intestinal atresia","definition":"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spektrum zahrnující kombinovaný imunodeficit a enteropatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CID-MIA/early-onset IBD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CID-MIA/IBD s časným nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"436274","display":"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","definition":"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kožní forma pseudoxanthoma elasticum like s retinitis pigmentosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PXE-like syndrome with retinitis pigmentosa"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom podobný PXE s retinitis pigmentosa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"437552","display":"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","definition":"A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní primární imunodeficit s defektní spontánní cytotoxicitou NK buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CD16 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit CD16"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní primární imunodeficience s defektní spontánní cytotoxicitou natural killer buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"437572","display":"OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: MYH7-vázaná skapulo-peroneální svalová dystrofie s pozdním nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: MYH7-related late-onset SPMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: MYH7-vázaná SPMD s pozdním nástupem"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: MYH7-vázaný skapulo-peroneální syndrom s pozdním nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437572"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"53698"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"636965"}]},{"code":"438178","display":"Fatty acyl-CoA reductase 1 deficiency","definition":"A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mentální retardaci, epilepsii a kataraktu, způsobený deficitem acyl-CoA reduktázy 1 mastných kyselin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FAR1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PFCRD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Peroxisomal fatty acyl-CoA reductase 1 disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující těžké mentální postižení, epilepsii a kataraktu, způsobený deficitem FAR1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující těžké mentální postižení, epilepsii a kataraktu, způsobený peroxisomální poruchou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438159","display":"STAT3-related early-onset multisystem autoimmune disease","definition":"A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"STAT3-vázané autoimunitní multisystémové onemocnění s časným nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438134","display":"PCNA-related progressive neurodegenerative photosensitivity syndrome","definition":"A rare developmental defect during embryogenesis caused by homozygous mutations in the <i>PCNA</i> gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom PCNA-vázané progresivní neurodegenerativní fotosensitivity"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438117","display":"Steel syndrome","definition":"A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Steelův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující bilaterální luxaci kyčle a hlavice radia, malý vzrůst, skoliózu, fúzi karpálních kůstek, pes cavus a faciální dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438114","display":"RARS-related autosomal recessive hypomyelinating leukodystrophy","definition":"A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"RARS-vázaná autozomálně recesivní hypomyelinizační leukodystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438075","display":"Ketoacidosis due to monocarboxylate transporter-1 deficiency","definition":"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ketoacidóza způsobená deficitem monokarboxylového transportéru 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438072","display":"Disorder of keton body transport","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Porucha transportu ketolátek"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"438279","display":"Human infection by orthopoxvirus","definition":"A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Humánní infekce orthopoxviry"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438279"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438274","display":"GCGR-related hyperglucagonemia","definition":"A rare tumor of pancreas caused by mutations in the <i>GCGR</i> gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"GCGR-vázaná hyperglukagonémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mahvash disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mahvashina choroba"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438266","display":"Progressive encephalomyelitis with rigidity and myoclonus","definition":"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní encefalomyelitida s rigiditou a myoklonem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PERM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PERM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3198"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"438216","display":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PURA-vázaná těžká neonatální hypotonie, záchvaty a encefalopatie způsobené bodovými mutacemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"438213"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"438213","display":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome","definition":"A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující PURA-vázanou těžkou neonatální hypotonii, záchvaty a encefalopatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"438207","display":"Severe autosomal recessive macrothrombocytopenia","definition":"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká autozomálně recesivní makrotrombocytopenie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439224","display":"ALECT2 amyloidosis","definition":"A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ALECT2 amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leukocyte chemotactic factor-2 amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leukocyte chemotactic factor-2 amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Získaná renální amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Amyloidóza leukocytárního chemotaktického faktoru-2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439232","display":"AApoAIV amyloidosis","definition":"A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"AApoAIV amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Apolipoprotein A-IV amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Apolipoprotein A-IV amyloidóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439212","display":"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome","definition":"A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující myopatii s časným nástupem, areflexii, respirační obtíže a dysfagii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EMARDD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EMARDD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439218","display":"KCNQ2-related developmental and epileptic encephalopathy","definition":"KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"KCNQ2-vázaná epileptická encefalopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KCNQ2-DEE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KCNQ2-NEE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KCNQ2-vázaná epileptická encefalopatie novorozenců"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439196","display":"Zinc-responsive necrolytic acral erythema","definition":"A rare skin disease characterized initially by erythematous patches with superficial necrosis, at later stages by hyperkeratotic plaques with a rim of dusky erythema, of exclusively acral distribution with a predilection for the lower extremities, and universal association with hepatitis C virus infection. Patients typically experience pruritus or pain. Serum zinc levels may or may not be decreased, although oral zinc supplementation often improves the condition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nekrolytický akrální erytém citlivý na zinek"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Necrolytic acral erythema"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NAE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NAE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nekrolytický akrální erytém"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439202","display":"Non-recovering obstetric brachial plexus lesion","definition":"A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nehojící se poporodní léze brachiálního plexu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic obstetric brachial plexus injury"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic obstetric brachial plexus palsy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-recovering OBPI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-recovering OBPL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronické poporodní ochrnutí brachiálního plexu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nehojící se OBPI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nehojící se OBPL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronické poporodní poranění brachiálního plexu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439202"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439167","display":"Placental insufficiency","definition":"A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Placentární insuficience"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Uteroplacental vascular insufficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Uteroplacentární vaskulární insuficience"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439175","display":"Pediatric arterial ischemic stroke","definition":"A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. 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developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom PDE4D haploinsuficience"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"439746","display":"Secondary polyarteritis nodosa","definition":"Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární polyarteritis nodosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary PAN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary periarteritis nodosa"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární PAN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární periarteritis 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Affected patients are often younger than those with systemic PAN and relapses appear to be more common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jednoorgánová polyarteritis nodosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-organ PAN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-organ periarteritis nodosa"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jednoorgánová PAN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jednoorgánová periarteritis 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Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fatální vrozená hypertrofická kardiomyopatie způsobená střádáním glykogenu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fatal congenital hypertrophic cardiomyopathy due to glycogenosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fatal congenital hypertrophic cardiomyopathy due to GSD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fatální vrozená hypertrofická kardiomyopatie způsobená 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Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Intersticiální plicní onemocnění způsobené deficitem ABCA3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Intersticiální plicní onemocnění způsobené deficitem ATP-binding cassette transporteru A3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"440354","display":"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","definition":"A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní syndrom zahrnující myopatii, retrakci střední části obličeje, senzorineurální ztrátu sluchu a rhizomelickou dysplázii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"440392","display":"Interstitial lung disease due to SP-C deficiency","definition":"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. 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Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nekrotizující infekce měkkých tkání"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NSTI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440368"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"440713","display":"Isolated sedoheptulokinase deficiency","definition":"A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. 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Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit L-ferritinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21408","display":"Biological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"440427","display":"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency","definition":"A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. 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The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná ageneze žlučníku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440987"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"441344","display":"OBSOLETE: Autosomal recessive optic atrophy, OPA9 type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Autozomálně recesivní optická atrofie, OPA8 typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441344"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"98676"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"98676"}]},{"code":"443057","display":"Sporadic porphyria cutanea tarda","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sporadická porphyria cutanea tarda"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Porphyria cutanea tarda type I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Porphyria cutanea tarda, typ I"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"101330"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"443062","display":"Familial porphyria cutanea tarda","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární porphyria cutanea tarda"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Porphyria cutanea tarda type II"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Porphyria cutanea tarda, typ II"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"101330"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"443079","display":"Central serous chorioretinopathy","definition":"A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. 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Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Selhání baroreflexu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"443070","display":"Hemicrania continua","definition":"A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemicrania continua"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443070"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"443073","display":"Charcot-Marie-Tooth disease type 2S","definition":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. 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Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neurčená epileptická encefalopatie s časným nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-specific EOEE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Undetermined EOEE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Undetermined early-onset epileptic encephalopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neurčená EOEE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"442582","display":"AH amyloidosis","definition":"A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. 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Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. 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from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. 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Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mandibulofaciální dysostóza s alopecií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MFDA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MFDA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444048","display":"46,XX ovarian dysgenesis-short stature syndrome","definition":"A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující ovariální dysgenezi a malý vzrůst při karyotypu 46,XX"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444013","display":"Combined oxidative phosphorylation defect type 23","definition":"A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný deficit oxidativní fosforylace, typ 23"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD23"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD23"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444069","display":"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome","definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující letální fetální malformaci mozku, duodenální atrézii a bilaterální renální hypoplázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444051","display":"20q11.2 microdeletion syndrome","definition":"A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrodeleční syndrom 20q11.2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(20)(q11.2)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 20q11"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(20)(q11.2)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 20q11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444077","display":"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kognitivní poruchu, hrubé rysy obličeje, srdeční defekty, obezitu, plicní poruchu, nízký vzrůst a skeletální dysplázii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CHOPS syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CHOPS syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444072","display":"Cerebellar-facial-dental syndrome","definition":"A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cerebelofaciodentální syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebellofaciodental syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cerebelární-faciální-dentální syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444463","display":"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency","definition":"A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující autoimunitní hemolytickou anemii, trombocytopenii a primární imunodeficit"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Evans syndrome associated with primary immunodeficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TRIANGLE disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující autoimunitní hemolytickou anémii, autoimunitní trombocytopenii a primární imunodeficienci"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit TPPII"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit tripeptidyl-peptidázy II"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Onemocnění zahrnující TPPII-vázanou imunodeficienci, autoimunitu a opoždění nervového vývoje s poruchou glykolýzy a lysozomální expanzí"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TRIANGLE onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444490","display":"Familial chylomicronemia syndrome","definition":"A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární chylomikronémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444316","display":"Idiopathic phalangeal acro-osteolysis","definition":"A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická falangeální akroosteolýza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic phalangeal acroosteolysis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická falangeální akro-osteolýza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444458","display":"Combined oxidative phosphorylation defect type 24","definition":"Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný deficit oxidativní fosforylace, typ 24"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD24"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD24"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"445110","display":"Limb-girdle muscular dystrophy due to POMK deficiency","definition":"Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pletencová svalová dystrofie způsobená deficitem POMK"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGMD due to POMK deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LGMD způsobená deficitem POMK"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"445062","display":"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome","definition":"A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující juvenilní diabetes mellitus a centrální a periferní neurodegeneraci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kombinovanou mozečkovou a periferní ataxii, ztrátu sluchu a diabetes mellitus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"445038","display":"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","definition":"A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"3-methylglutakonová acidurie, typ 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"3-methylglutaconic aciduria type 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MGA7"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující 3-methylglutakonovou acidurii, kataraktu, neurologickou poruchu a neutropenii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MGA7"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"445018","display":"Syndromic autoimmune enteropathy due to LRBA deficiency","definition":"A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný imunodeficit způsobený deficitem LRBA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CID způsobená deficitem LRBA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"444941","display":"Caudal regression-sirenomelia spectrum","definition":"A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. 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Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit NIK"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary immunodeficiency with multifaceted aberrant lymphoid immunity"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární imunodeficience s multifacetovou odchylkou lymfatické imunity"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"447737","display":"Combined immunodeficiency due to DOCK2 deficiency","definition":"A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. 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The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zvýšená náchylnost k lokalizované juvenilní periodontitidě"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AgP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile periodontitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Susceptibility to localized juvenile periodontitis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"445197","display":"Secondary vasculitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární vaskulitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445197"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"447881","display":"Idiopathic dropped head syndrome","definition":"A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. 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Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit lipoyl transferázy 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21408","display":"Biological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"447774","display":"Secondary sclerosing cholangitis","definition":"A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární sklerotizující cholangitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"447771","display":"Sclerosing cholangitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sklerotizující cholangoitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447771"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"447784","display":"Mitochondrial pyruvate carrier deficiency","definition":"A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit mitochondriálního pyruvátového přenašeče"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"447777","display":"Keratocystic odontogenic tumor","definition":"A rare odontogenic tumor characterized by an unilocular or multilocular cyst most commonly located in the posterior body and lower ramus of the mandible, often surrounding the crown of the third molar. Histopathologically, the lesion shows a lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. Patients may be asymptomatic or present with local infection and/or signs and symptoms of mass effect. Recurrence is rare after complete surgical removal. Some patients have multiple cysts (metachronous or synchronous), especially in the context of nevoid basal cell carcinoma syndrome (Gorlin syndrome).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Keratocystický odontogenní tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KTOC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Odontogenic keratocystoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KTOC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Odontogenní keratocysta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"447757","display":"Autosomal dominant spastic paraplegia type 9B","definition":"A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní spastická paraplegie, typ 9B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AD-SPG9B"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AD-SPG9B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"447753","display":"Autosomal dominant spastic paraplegia type 9A","definition":"A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. 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Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoimunitní encefalopatie s parasomnií a obstruktivní spánkovou apnoí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anti-IgLON5 disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anti-IgLON5 syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"420794","display":"Cono-spondylar dysplasia","definition":"Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). 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Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný deficit oxidativní fosforylace, typ 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tremor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cervikální dystonie s nástupem v dospělosti, typ DYT23"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYT23"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dystonia 23"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYT23"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dystonie 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Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniocervikální dystonie s postižením hrtanu a horních končetin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYT24"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dystonia 24"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYT24"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dystonie 24"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"420556","display":"Visual snow syndrome","definition":"Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom sněžného vidění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420556"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"420402","display":"Semicircular canal dehiscence syndrome","definition":"A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. 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Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Tranzientní myeloproliferativní syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient myeloproliferative disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transient abnormal myelopoiesis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TMD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tranzientní abnormální myelopoéza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tranzientní myeloproliferativní choroba"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"420584","display":"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome","definition":"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující postaxiální polydaktylii, anomálie přední hypofýzy a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Culler-Jones syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"420699","display":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","definition":"A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in <i>CXCR2</i>.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní těžká vrozená neutropenie způsobená deficitem CXCR2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"420686","display":"Woolly hair-palmoplantar keratoderma syndrome","definition":"Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vlnité vlasy a palmoplantární keratoderma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KWWH type IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Keratoderma with woolly hair type IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Woolly hair-palmoplantar hyperkeratosis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KWWH typ 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Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžký kombinovaný imunodeficit způsobený deficitem CTPS1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCID způsobená deficitem 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Massive menorrhagia and chronic anemia have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Krvácivá porucha způsobená deficitem CalDAG-GEFI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Krvácivá porucha způsobená deficitem vápníkového a DAG-regulovaným guaninem výměnného faktoru 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423461","display":"Mucolipidosis type III alpha/beta","definition":"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mukolipidóza, typ III alfa/beta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ML 3 alpha/beta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ML III alpha/beta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mucolipidosis type 3 alpha/beta"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ML 3 alfa/beta"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ML III alfa/beta"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mukolipidóza, typ 3 alfa/beta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"577"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"423470","display":"Mucolipidosis type III gamma","definition":"Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mukolipidóza, typ III gamma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ML 3 gamma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ML III gamma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mucolipidosis type 3 gamma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ML 3 gama"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ML III gama"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mukolipidóza, typ 3 gama"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"577"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"423454","display":"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome","definition":"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. 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Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní těžká kongenitální neutropenie způsobená deficitem JAGN1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCN due to JAGN1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe congenital neutropenia due to jagunal homolog 1 deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423296","display":"Spinocerebellar ataxia type 38","definition":"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 38"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA38"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA38"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423306","display":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","definition":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, malý vzrůst, mentální retardaci a faciální dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423717","display":"Cutaneous larva migrans","definition":"Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cutaneous larva migrans"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423717"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423771","display":"Rare carcinoma of 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High prenatal &#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, spasticitu končetin, dystrofii sítnice a diabetes insipidus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus 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associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární světlobuněčný karcinom ledviny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary clear cell renal cell adenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární světlobuněčný adenokarcinom 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unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 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One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Solidní pseudopapilární karcinom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Frantz tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Solid pseudopapillary carcinoma of pancreas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Solid pseudopapillary neoplasm of the pancreas"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický solidní pseudopapilární karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424058","display":"Intraductal papillary mucinous carcinoma of pancreas","definition":"Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Intraduktální papilární mucinózní karcinom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IPMN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic intraductal papillary mucinous carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický intraduktální papilární mucinózní karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424080","display":"Undifferentiated carcinoma with osteoclast-like giant cells of pancreas","definition":"A rare type of pancreatic ductal adenocarcinoma characterized by composition of non-neoplastic osteoclast-like multinucleated giant cells, a mononuclear histiocytic component, and the neoplastic cells, which vary from spindle-shaped to epithelioid and can be very large and pleomorphic. Clinical features of pancreatic ductal adenocarcinoma include abdominal pain, nausea, weight loss, jaundice, and new-onset diabetes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Osteoklastický obrovskobuněčný tumor pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OGCT of pancreas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Osteoclastic giant cell tumor of pancreas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic osteoclastic giant cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic undifferentiated carcinoma with osteoclast-like giant cells"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Undifferentiated carcinoma of pancreas with osteoclast-like giant cells"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OGCT pankreatu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický osteoklastický obrovskobuněčný tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický nediferencovaný karcinom s osteoklastoidními obrovskými buňkami"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nediferencovaný karcinom pankreatu s osteoklastoidními obrovskými buňkami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424073","display":"Serous cystadenocarcinoma of pancreas","definition":"A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Serózní cystadenokarcinom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic serous cystadenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický serózní cystadenokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424107","display":"Congenital myopathy with myasthenic-like onset","definition":"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená myopatie s nástupem podobným myastenii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424099","display":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome","definition":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikroftalmii s kolobomy a rhizomelickou dysplázii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Microphthalmia-coloboma-rhizomelic skeletal dysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikroftalmie, kolobom a rhizomelická skeletální dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424925","display":"Qualitative or quantitative defects of Torsin-1A-interacting protein 1","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kvalitativní nebo kvantitativní defekty Torsin-1A-interagujícího proteinu 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424925"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"424261","display":"TOR1AIP1-related limb-girdle muscular dystrophy","definition":"A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní pletencová svalová dystrofie, typ 2Y"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive limb-girdle muscular dystrophy type 2Y"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive muscular dystrophy due to LAP1B deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGMD type 2Y"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LGMD2Y"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Muscular dystrophy with progressive weakness, distal contractures and rigid spine"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TOR1AIP1-related LGMD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní svalová dystrofie způsobená deficitem LAP1B"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní svalová dystrofie způsobená deficitem Torsin-1A-interagujícího proteinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424016","display":"Adenocarcinoma of the anal canal","definition":"A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenokarcinom análního kanálu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424013","display":"Carcinoma of the anal canal","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom análního kanálu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"424027","display":"Progressive myoclonic epilepsy type 8","definition":"A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní myklonická epilepsie, typ 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EPM8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PME type 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Progressive myoclonic epilepsy due to CERS1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Progressive myoclonus epilepsy type 8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EPM8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PME typ 8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Progresivní myoklonická epilepsie, typ 8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Progresivní myoklonická epilepsie způsobená deficitem CERS1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424019","display":"Squamous cell carcinoma of the anal canal","definition":"Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom análního kanálu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424039","display":"Squamous cell carcinoma of pancreas","definition":"A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic squamous cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický dlaždicobuněčný karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424033","display":"Rare epithelial tumor of pancreas","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácný epiteliální tumor pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare pancreatic epithelial tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vzácný pankreatický epiteliální nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424033"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"424053","display":"Mucinous cystadenocarcinoma of the pancreas","definition":"A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mucinózní cystadenokarcinom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic mucinous cystadenocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický mucinózní cystadenokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424046","display":"Acinar cell carcinoma of pancreas","definition":"A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom pankreatu z acinárních buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic acinar cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický karcinom z acinárních buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423968","display":"Squamous cell carcinoma of the small intestine","definition":"Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom tenkého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Squamous cell carcinoma of the small bowel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423975","display":"Neuroendocrine tumor of the small intestine","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuroendokrinní tumor tenkého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NET of the small intestine"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuroendocrine neoplasm of the small intestine"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuroendocrine tumor of small bowel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"423982","display":"Epithelial tumor of the appendix","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epiteliální tumor apendixu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Appendiceal epithelial tumor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"423991","display":"Rare epithelial tumor of colon","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácný epiteliální tumor tlustého střeva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"423994","display":"Squamous cell carcinoma of the colon","definition":"A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. 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The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom rekta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rectal squamous cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rektální dlaždicobuněčný karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424010","display":"Epithelial tumor of anal canal","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epiteliální tumor análního kanálu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"423776","display":"Hereditary gastric cancer","definition":"Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). 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The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nediferencovaný karcinom žaludku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Undifferentiated gastric carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nediferencovaný žaludeční karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423793","display":"Rare tumor of small intestine","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácný tumor tenkého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare tumor of small bowel"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vzácný nádor tenkého střeva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"423798","display":"Mesenchymal tumor of small intestine","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mezenchymální tumor tenkého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mesenchymal tumor of small bowel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"423894","display":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","definition":"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii a komplexní motorickou a senzorickou axonální neuropatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"423957","display":"Rare carcinoma of small intestine","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácný karcinom tenkého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare carcinoma of small bowel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"431140","display":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome","definition":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mikroftalmii s kolobomy, mikrocefalii, mentální retardaci a malý vzrůst"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"425368","display":"Rare epithelial tumor of small intestine","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácný epiteliální tumor tenkého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare epithelial tumor of small bowel"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vzácný epiteliální nádor tenkého střeva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"425003","display":"Inherited digestive cancer-predisposing syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom vrozené predispozice pro vznik nádoru trávicího traktu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"425120","display":"STING-associated vasculopathy with onset in infancy","definition":"STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"STING-asociovaná vaskulopatie s nástupem v dětství"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SAVI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SAVI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424943","display":"Adenocarcinoma of the liver and intrahepatic biliary tract","definition":"A rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenoarcinom jater a intrahepatálních žlučových cest"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adenocarcinoma of the liver and IBT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adenokarcinom jater a IBT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424970","display":"Undifferentiated carcinoma of liver and intrahepatic biliary tract","definition":"Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nediferencovaný karcinom jater a intrahepatálních žlučových cest"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Undifferentiated carcinoma of liver and IBT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nediferencovaný karcinom jater a IBT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424933","display":"Rare malignant epithelial tumor of liver and intrahepatic biliary tract","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné epiteliální tumory jater a intrahepatálních žlučových cest"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare malignant epithelial tumor of liver and IBT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vzácný epiteliální nádor jater a IBT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424933"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"424936","display":"Carcinoma of liver and intrahepatic biliary tract","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom jater a intrahepatálních žlučových cest"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carcinoma of liver and IBT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Karcinom jater a IBT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424936"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"424991","display":"Adenocarcinoma of the gallbladder and extrahepatic biliary tract","definition":"A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenokarcinom žlučníku a extrahepatálních žlučových cest"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adenocarcinoma of the gallbladder and EBT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adenokarcinom žlučníku a EBT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"424996","display":"Squamous cell carcinoma of gallbladder and extrahepatic biliary tract","definition":"A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). 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Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní encefalopatie s leukodystrofií způsobená deficitem DECR"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2,4-dienoyl-CoA reductase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DECR deficiency with hyperlysinemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit 2,4-dienoyl-CoA reduktázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit DECR s 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resistance and right ventricular dysfunction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pulmonální venookluzní choroba a/nebo pulmonální kapilární hemangiomatóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not 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Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. 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Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. 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It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. 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Oral manifestations include gingival frenulae, lingual hamartomas, cleft/lobulated tongue and a cleft palate. Facial features can include telecanthus and an upslanting palpebral fissures. 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Variable features may include chronic cough and autonomic dysfunction. 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Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká kombinovaná imunodeficience způsobená deficitem LAT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-B+NK+ SCID due to LAT deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCID způsobená deficitem LAT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"504530","display":"Combined immunodeficiency due to Moesin deficiency","definition":"A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná imunodeficience způsobená nedostatkem moesinu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CID due to Moesin deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSN-related combined immunodeficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked Moesin-associated immunodeficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSN-vázaná kombinovaná imunodeficience"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaná moesin-asociovaná imunodeficience"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CID způsobená deficitem moesinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"26823","display":"NON RARE IN EUROPE: Pigment-dispersion syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Syndrom disperze pigmentu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"26793","display":"Very long chain acyl-CoA dehydrogenase deficiency","definition":"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit acyl-CoA dehydrogenázy s velmi dlouhým řetězcem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VLCAD deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VLCADD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit VLCAD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"VLCADD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"29072","display":"Hereditary pheochromocytoma-paraganglioma","definition":"A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). 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Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). 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Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. 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Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom MEPAN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive childhood-onset dystonia, DYT29 type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Childhood-onset generalized dystonia-optic atrophy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYT29"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dystonia 29"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYT29"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dystonie 29"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom neurodegenerace asociovaný s proteinem mitochondriální enoyl CoA reduktázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní dětská dystonie, typ DYT29"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující generalizovanou dystonii s nástupem v dětství a oční atrofii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508533","display":"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. 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Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozené progresivní selhání kostní dřeně, imunodeficienci B buněk a skeletální dysplázii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MYSM1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit MYSM1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508410","display":"Familial intestinal malrotation","definition":"A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární střevní malrotace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508512","display":"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome","definition":"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozené četné skvrny barvy bílé kávy a zvýšenou výměnu mezi sesterskými chromatidami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508529","display":"Intermediate epidermolysis bullosa simplex with cardiomyopathy","definition":"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná bazální epidermolysis bullosa simplex s kožní atrofií, jizvením a ztrátou vlasů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermediate EBS with cardiomyopathy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508523","display":"Hyperphenylalaninemia due to DNAJC12 deficiency","definition":"A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hyperfenylalaninemie způsobená deficitem DNAJC12"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hyperfenylalaninemie - nonfenylketonurická a non-BH4-deficitní"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508488","display":"8q24.3 microdeletion syndrome","definition":"A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom delece 8q24.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(8)(q24.3)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Deletion 8q24.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 8q24.3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(8)(q24.3)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Delece 8q24.3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 8q24.3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Verheijové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508476","display":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující rozštěp rtu a patra, kraniofaciální dysmorfismus, vrozenou srdeční vadu a ztrátu sluchu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hyaluronidase 2 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit hyaluronidázy 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508501","display":"Orofaciodigital syndrome type 18","definition":"A rare developmental disorder of the ciliopathy group characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Orofaciodigitální syndrom s malým vzrůstem a brachymezofalangií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OFD18"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oral-facial-digital syndrome type 18"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oral-facial-digital syndrome with short stature and brachymesophalangy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OFD18"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Orofaciodigitální syndrom, typ 18"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"508498","display":"Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, srdeční anomálie, malý vzrůst a hypermobilitu kloubů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"505652","display":"CDKL5-deficiency disorder","definition":"A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CDKL5-vázaná epileptická encefalopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit CDKL5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Poruchy způsobené mutací CDKL5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Porucha způsobená deficitem CDKL5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506784","display":"Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome","definition":"An intermediate form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving between 10 to 29% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Přesahující syndrom SJS/TEN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SJS/TEN overlap syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Stevens-Johnson/TEN overlap syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Stevens-Johnson/toxic epidermal necrolysis overlap syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Přesahující syndrom Stevensův-Johnsonův/TEN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Přesahující syndrom Stevensův-Johnsonův/toxické epidermální nekrolýzy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Stevensův-Johnsonův syndrom/Syndrom přesahující toxické epidermální nekrolýzy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Přesahující syndrom Stevens-Johnsonův/TEN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Přesahující syndrom Stevens-Johnsonův/toxické epidermální nekrolýzy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Stevens-Johnsonův syndrom/Syndrom přesahující toxické epidermální nekrolýzy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"95455"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"506334","display":"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency","definition":"A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární nefrotický syndrom rezistentní vůči steroidům s adrenální insuficiencí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPLIS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sphingosine phosphate lyase insufficiency syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární nedostatecnost nadledvin a nefrotický syndrom rezistentní vuci steroidum na podklade deficitu SGPL1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární nedostatečnost nadledvin a nefrotický syndrom rezistentní vůči steroidům na podkladě deficitu SGPL1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506307","display":"Stromme syndrome","definition":"A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Strommův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jejunal atresia-microcephaly-ocular anomalies syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující jejunální atrézii, mikrocefalii a oční anomálie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující jejunální atrézii (syndrom jablečné slupky), oční anomálie a mikrocefalii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506358","display":"Gabriele-de Vries syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gabrielův-de Vriesův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"YY1 haploinsufficiency syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom haploinsuficience YY1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Gabriele-de Vriesův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506353","display":"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction","definition":"A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní komplexní spastická paraplegie způsobená dysfunkcí Kennedyho dráhy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive complex SPG due to Kennedy pathway dysfunction"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spastic paraplegia type 81"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní komplexní SPG způsobená dysfunkcí Kennedyho 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mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuroendokrinní novotvar jícnu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Esophageal NEN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Esophageal neuroendocrine neoplasm"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NEN of esophagus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEN jícnu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506207","display":"Rare disorder potentially indicated for transplant","definition":"A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná porucha indikovaná k transplantaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506207"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"506210","display":"Rare disorder potentially indicated for liver transplant","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná porucha indikovaná k transplantaci jater"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506210"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"506213","display":"Rare disorder potentially indicated for kidney transplant","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná porucha indikovaná k transplantaci ledvin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506213"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"506090","display":"Serotonin-producing neuroendocrine tumor of pancreas","definition":"A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuroendokrinní tumor pankreatu produkující serotonin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Serotonin-producing PNET"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Serotonin-producing pancreatic NET"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Serotonin-producing pancreatic neuroendocrine tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PNET produkující serotonin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický NET produkující serotonin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický neuroendokrinní tumor produkující serotonin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506098","display":"Neuroendocrine carcinoma of pancreas","definition":"A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (>60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuroendokrinní karcinom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic NEC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic neuroendocrine carcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Poorly-differentiated NEN of pancreas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Poorly-differentiated neuroendocrine neoplasm of pancreas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Poorly-differentiated pancreatic NEN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Poorly-differentiated pancreatic neuroendocrine neoplasm"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický NEC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický neuroendokrinní karcinom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Špatně diferencovaný pankreatický NEN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Špatně diferencovaný pankreatický neuroendokrinní novotvar"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Špatně diferencovaný neuroendokrinní novotvar pankreatu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"506112","display":"Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas","definition":"A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Smíšený neuroendokrinní a nonneuroendokrinní novotvar pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MiNEN of pancreas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic MiNEN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický 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Patients present gait disturbances but remain ambulatory. 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Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"C11ORF73-vázaná autozomálně recesivní hypomielinizační leukodystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypomyelinating leukodystrophy due to hikeshi deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypomyelinating leukodystrophy due to hikeshi deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypomyelinizační leukodystrofie způsobená deficitem hikeshi"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní hypomyelinizační leukoencefalopatie spojená s C11ORF73"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"495818","display":"9q33.3q34.11 microdeletion syndrome","definition":"A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrodeleční syndrom 9q33.3q34.11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(9)(q33.3q34.11)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Deletion 9q33.3q34.11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 9q33.3q34.11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"495879","display":"Congenital agenesis of the scrotum","definition":"A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. 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Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující labioskrotální agenezi, malformace mozečku, korneální dystrofii a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COFG syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vrozenou agenezi velkých stydkých pysků nebo šourku, mozečkovou malformaci, rohovkovou dystrofii a obličejový dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"495930","display":"Familial monosomy 7 syndrome","definition":"A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární monozomie 7"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496641","display":"Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome","definition":"A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující progresivní difuzní atrofii mozku s časným nástupem, mikrocefalii, svalovou slabost a atrofii optiků"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496686","display":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","definition":"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom kyfózy, laterální atrofie jazyka a myofibrilární myopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496689","display":"Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome","definition":"A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kyfoskoliózu, laterální atrofii jazyka a hereditární spastickou paraplegii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kyfoskoliózu, laterální atrofii jazyka a HSP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496693","display":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující omfalokélu, brániční hernii, kardiovaskulární anomálie a defekty radiálního paprsku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Gershoni-Baruch syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Gershoni-Baruch syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Gershoni-Baruchové syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496751","display":"EVEN-plus syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"EVEN-plus syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Epifyzeální a vertebrální dysplázie, mikrocie, plochý nos a přidružené vady"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496756","display":"Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome","definition":"A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující progresivní encefalopatii s časným nástupem, spastickou ataxii a spinální muskulární atrofii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"496790","display":"Ocular anomalies-axonal neuropathy-developmental delay syndrome","definition":"A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující atrofii optiků, periferní neuropatii a vývojové opoždění"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Harel-Yoon syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Harel-Yoon syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Harel-Yoonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494433","display":"MIRAGE syndrome","definition":"A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom MIRAGE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující myelodysplázii, časté infekty, omezení růstu, adrenální hypoplázii, dysgenezi genitálu a enteropatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494439","display":"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující pigmentovou degeneraci sítnice, ztrátu sluchu, hypotyreózu, předčasné stárnutí a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující retinitis pigmentosa, hluchotu, hypotyreózu, předčasné stárnutí a faciální dysmorfismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující retinitis pigmentosa, ztrátu sluchu, hypotyreózu, předčasné stárnutí a typický fenotyp tváře"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494424","display":"Extracranial carotid artery aneurysm","definition":"A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Extrakraniální aneuryzma krkavice"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ECAA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ECCA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ECAA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ECCA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494428","display":"Idiopathic pleuroparenchymal fibroelastosis","definition":"A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická pleuroparenchymální fibroelastóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IPPFE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic pleuropulmonary fibroelastosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IPPFE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494451","display":"Vulvar basal cell carcinoma","definition":"A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bazocelulární karcinom vulvy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Basal cell carcinoma of vulva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"494418"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"494454","display":"Vulvar adenocarcinoma","definition":"A rare vulvar carcinoma characterized by a malignant epithelial neoplasm of glandular origin and/or with glandular characteristics arising in the vulva, including adenocarcinoma of mammary gland type, sweat gland type, and intestinal type, as well as adenocarcinomas of the Bartholin glands and Paget disease of the vulva. Depending on the type of tumor and disease stage, patients may present with a solitary vulvar mass, bleeding, or (in the case of Paget disease) a pruritic, erythematous, eczematous lesion.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenokarcinom vulvy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adenocarcinoma of the vulva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"494418"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"494444","display":"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","definition":"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující DIAPH1-vázanou senzorineurální ztrátu sluchu a trombocytopenii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DIAPH1-related sensorineural deafness-thrombocytopenia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující DIAPH1-vázanou senzorineurální hluchotu a trombocytopenii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494448","display":"Vulvar squamous cell carcinoma","definition":"A rare vulvar carcinoma characterized by an ulcer, nodule, macule, or pedunculated mass which is histologically composed of infiltrating islands of malignant squamous cells. Histological subtypes include keratinizing, non-keratinizing, basaloid, warty, and verrucous carcinomas. Some tumors are associated with human papilloma virus, smoking, high grade squamous intraepithelial lesion, chronic vulvar inflammatory disorders, or differentiated vulvar intraepithelial neoplasia. Patients may present with discharge, bleeding, or pain. Most important prognostic features are tumor depth and lymph node status.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný (spinocelulární) karcinom vulvy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Squamous cell carcinoma of the vulva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"494418"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"494344","display":"RERE-related neurodevelopmental syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"RERE-vázaný neurovývojový syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494418","display":"Vulvar carcinoma","definition":"A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom vulvy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carcinoma of vulva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494421","display":"Sacrococcygeal teratoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sakrokokcygeální teratom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"883"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"494348","display":"Early-onset familial noncirrhotic portal hypertension","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární necirhotická portální hypertenze s časným nástupem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494348"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"596937"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"596937"}]},{"code":"494547","display":"Squamous cell carcinoma of the hypopharynx","definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný (spinocelulární) karcinom hypofaryngu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494541","display":"Childhood-onset benign chorea with striatal involvement","definition":"A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující dětskou benigní choreu a postižená striata"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494526","display":"Infantile-onset generalized dyskinesia with orofacial involvement","definition":"A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná dyskinezie s orofaciálním postižením s nástupem v kojeneckém věku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile-onset orofacial-trunk-limbs dyskinesia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dyskineze v orofaciální oblasti, oblasti trupu a koncetin s nástupem v detství"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dyskineze v orofaciální oblasti, oblasti trupu a končetin s nástupem v dětství"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"494457","display":"Rare hyperkinetic movement disorder","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná hyperkinetická pohybová porucha"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494457"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"494550","display":"Squamous cell carcinoma of the larynx","definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný (spinocelulární) karcinom hrtanu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500180","display":"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder","definition":"A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Regresní syndrom s extrapyramidovou hybnou poruchou s nástupem v dětství"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CONDBA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500188","display":"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome","definition":"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). 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In immunosuppressed individuals <i>Acanthamoeba</i> genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the <i>Balamuthia</i> genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. 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Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom vrozených vad mozku, muskuloskeletálních abnormalit, faciálního dysmorfismu a intelektové nedostatečnosti"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Zhu-Tokita-Takenouchi-Kim syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"781","display":"Q fever","definition":"Q fever, caused by <i>Coxiella burnetii</i>, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Horečka Q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Coxiellosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infection due to Coxiella burnetii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nine Mile fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Quadrilateral fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Query fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Koxielóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infekce způsobená Coxiellou burnetii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Horečka Nine Mile"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Horečka Quadrilateral"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=781"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500159","display":"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. 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It is caused by dematiaceous fungi, with the main etiological agents being <i>Fonsecaea pedrosoi</i>, <i>Phialophora verrucosa</i> and <i>Cladophialophora carrionii</i>. 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Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. 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It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. 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Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. 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The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Osteosklerotická metafyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"169","display":"Ringed hair disease","definition":"A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nemoc kroužkovitých vlasů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pili annulati"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pili annulati"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500533","display":"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome","definition":"A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující polyhydramnion, megalencefalii a symptomatickou epilepsii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PMSE syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMSE syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMSE syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"168","display":"Loose anagen syndrome","definition":"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom se snadno vypadávajícími vlasy v anagenní fázi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500545","display":"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract","definition":"A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Závažná neurovývojová porucha s obtížným krmením, stereotypickými pohyby rukou a bilaterální kataraktou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"345","display":"Dissecting cellulitis of the scalp","definition":"Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Disekující celulitida skalpu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"591","display":"Furuncular myiasis","definition":"A parasitic disease characterized by infestation of the skin with larvae of a variety of fly species. Furuncular myiasis specifically involves flies whose eggs are able to breach healthy skin, which concerns three species: Cordylobia anthropophaga (also called the African tumbu fly or Cayor worm for the larvae) and Cordylobia rodhaini (the Lund's fly), and Dermatobia hominis (the human botfly).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Furunkulární myiáza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Furunculoid myiasis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Furunculous myiasis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Furunkuloidní myiáza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Furunkulózní myiáza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=591"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"723","display":"Pneumocystosis","definition":"Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus <i>Pneumocystis jiroveci</i>. The prevalence is unknown. <i>Pneumocystis jiroveci</i> is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pneumocystóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=723"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"472","display":"Isosporiasis","definition":"Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with <i>Isospora belli</i> (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izosporiáza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cystoisosporiasis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cystoizosporiáza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=472"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"504","display":"Creeping myiasis","definition":"A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plíživá myiáza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Migratory myiasis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Migrující myiáza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"401","display":"Hymenolepiasis","definition":"Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly <i>Hymenolepis nana</i>, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hymenolepióza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"430","display":"OBSOLETE: Hypodermyiasis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Hypodermyiáza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=430"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"504"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"504"}]},{"code":"390","display":"Histoplasmosis","definition":"A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of <i>Histoplasma capsulatum</i>. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Histoplazmóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Darling disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Darlingova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=390"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"400","display":"Cystic echinococcosis","definition":"A rare parasitic disease characterized by slowly enlarging cysts of the liver, lungs and other organs which often go unnoticed for years. They are caused principally by the larval form (also called metacestode) of Echinococcus granulosus sensu lato tapeworm. The adult form of this tapeworm parasitizes the intestine of dogs. Cystic echinococcosis (formerly hydatidosis) generally affects large domestic herbivores and humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cystická echinokokóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydatid cyst"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydatid disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hydatidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hydatidová nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hydatidóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"500464","display":"Squamous cell carcinoma of the nasal cavity and paranasal sinuses","definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom nosní dutiny a paranazálních dutin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Squamous cell carcinoma of the nasal cavity and sinuses"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Squamous cell carcinoma of the nasal cavity and sinuses"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dlaždicobuněčný karcinom nosní dutiny a vedlejších nosních dutin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"520","display":"Acute promyelocytic leukemia","definition":"An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní promyelocytární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML M3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with t(15;17)(q22;q12);(PML/RARalpha) and variants"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"APML"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myeloblastic leukemia 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML M3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML s t(15;17)(q22;q12);(PML/RARalpha) a varianty"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myeloblastická leukémie, typ 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myeloidní leukémie s t(15;17)(q22;q12);(PML/RARalpha) a varianty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"450","display":"Visceral heterotaxy","definition":"A rare developmental defect during embryogenesis characterized by abnormal arrangement of the thoraco-abdominal organs across the left-right axis of the body. By definition, it does not include situs inversus totalis (total mirror-imagery).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Heterotaxie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Heterotaxy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Heterotaxy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Heterotaktický syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Defekt lateralizace"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Viscerální heterotaxie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"529","display":"Roch-Leri mesosomatous lipomatosis","definition":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rochova-Leriho mesozomatózní lipomatóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Roch-Leriho mesozomatózní lipomatóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"224","display":"Neonatal diabetes mellitus","definition":"A group of rare diabetes mellitus characterized by neonatal diabetes mellitus presents with symptoms including hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis (which can be severe and lead coma), in a child within the first months of life. It encompasses several disorders in which diabetus mellitus may be transient or permanent. It may present as an isolated condition or as part of a syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Novorozenecký diabetes mellitus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital diabetes mellitus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diabetes of infancy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monogenic diabetes of infancy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NDM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NDM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"826","display":"Sporotrichosis","definition":"Sporotrichosis is an infection caused by the dimorphic fungus <i>Sporothrix schenckii</i>, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sporotrichóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=826"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"879","display":"Tungiasis","definition":"Tungiasis is a parasitic skin disease caused by the female sand flea <i>Tunga penetrans</i>. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Tungiáza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=879"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502305","display":"Cochleovestibular malformation","definition":"A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kochleovestibulární malformace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502318","display":"Cochlear nerve deficiency","definition":"A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit kochleárního nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502363","display":"Squamous cell carcinoma of the oral cavity","definition":"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom dutiny ústní"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502366","display":"Squamous cell carcinoma of the lip","definition":"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom rtu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502369","display":"Squamous cell carcinoma of oral cavity and lip","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom dutiny ústní a rtu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502369"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"502423","display":"Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome","definition":"A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mitochondriální syndrom zahrnující myopatii, mozečkovou ataxii a pigmentovou retinopatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mitochondriální myopatii, cerebelární atrofii a pigmentovou retinopatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502430","display":"Weiss-Kruszka Syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující metopický hřeben, ptózu a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Metopic ridging-ptosis-facial dysmorphism syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502434","display":"STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"STAG1-vázaný syndrom zahrnující mentální retardaci, faciální dysmorfismus a gastroezofageální reflux"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502437","display":"4q25 proximal deletion syndrome","definition":"A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom proximální delece 4q25"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Proximal del(4)(q25)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Proximal monosomy 4q25"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Proximal del(4)(q25)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Proximal monosomy 4q25"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Proximální del(4)(q25)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Proximální monozomie 4q25"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502499","display":"Erythema multiforme major","definition":"A rare skin disease characterized most typically by targetoid papules with 3-rings of concentric color variation (dark center, surrounded by lighter pink ring and an outer red ring) symmetrically distributed on the extensor surfaces of the extremities, or more diffuse, accompanied by 2 or more mucosal involvements (erosions of the oral, genital, anal mucosa, conjunctivitis, pseudomembranes). The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, resolving within a few weeks; although, there is a risk of recurrence. The disease is mostly triggered by infectious agents (herpes virus, <i>mycoplasma pneumoniae</i>) but a subset of patients have auto-antibodies targeting plakins. Rare cases of severe mucosal sequelae have been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Erythema multiforme major"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Erythema exsudativum multiforme majus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Erythema multiforme majus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Erythema multiforme majus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Erythema exsudativum multiforme majus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"502444","display":"Alkaline ceramidase 3 deficiency","definition":"A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit alkalické ceramidázy 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ACER3-related early childhood-onset progressive leukodystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leukodystrophy due to alkaline ceramidase 3 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leukodystrophy due to alkaline ceramidase 3 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ACER3-related early childhood-onset progressive leukodystrophy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leukodystrofie způsobená deficitem alkalické ceramidázy 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Progresivní leukodystrofie v raném dětství související s ACER3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"432","display":"Normosmic congenital hypogonadotropic hypogonadism","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Normosmický vrozený hypogonadotropický hypogonadismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Normosmic idiopathic hypogonadotropic hypogonadism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"nIHH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit gonadotropinu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaný vrozený deficit gonadotropinu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Normosmický idiopatický hypogonadotropní hypogonadismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"nIHH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"238666"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"91","display":"Aromatase deficiency","definition":"A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit aromatázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital estrogen deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený deficit estrogenu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"785","display":"Estrogen resistance syndrome","definition":"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. 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GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. 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The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. 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Clinical presentation varies depending on the type and severity of the deficiencies as well as the age at diagnosis. 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Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Karcinom příštítných tělísek"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"759","display":"NON RARE IN EUROPE: Central precocious puberty","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Centrální předčasná puberta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: CPP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Gonadotropin-dependant precocious puberty"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NON RARE IN EUROPE: CPP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NON RARE IN EUROPE: Předčasná puberta závislá na gonadotropinech"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=759"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"786","display":"Generalized glucocorticoid resistance syndrome","definition":"A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rezistence ke glukokortikoidům"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1676","display":"Idiopathic pulmonary artery dilatation","definition":"Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická plicní arteriální dilatace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1666","display":"Dextrocardia","definition":"A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dextrokardie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1461","display":"Criss-cross heart","definition":"Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Crisscross srdce"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Criss-cross atrioventricular relationships"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Superoinferior ventricles"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Twisted atrioventricular connections"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Criss-cross vztah síní a komor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Superoinferiorní poloha komor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Zkřížené spojení síní a komor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"1205","display":"Mitral atresia","definition":"A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. 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Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. 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Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární atriální myxom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"874","display":"Primary adult heart tumor","definition":"A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. 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Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom krátkých žeber s polydaktylií, typ 5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"720","display":"Pili bifurcati","definition":"An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. 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Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární cutis verticis gyrata"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"498602","display":"Sugarman brachydactyly","definition":"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. 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Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. 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It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. 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Patients typically become symptomatic in childhood or adolescence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"LRP5-vázaná primární osteoporóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"498485","display":"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome","definition":"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující nadměrný růst, nedostatečnou modelací metafýz a spondylární dysplázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"573","display":"Monilethrix","definition":"A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Moniletrix"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Moniliform hair syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom moniliformních vlasů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"498488","display":"Overgrowth syndrome with 2q37 translocation","definition":"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Overgrowth syndrom s translokací 2q37"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"525","display":"Lichen planopilaris","definition":"A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lichen planopilaris"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Follicular lichen planus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LPP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lichen follicularis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lichen planus follicularis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Folikulární lichen planus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LPP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lichen follicularis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lichen planus follicularis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"498491","display":"Non-syndromic complete hemimelia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kompletní hemimelie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"700","display":"Alopecia totalis","definition":"A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Alopecia totalis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"840","display":"Syringocystadenoma papilliferum","definition":"A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. 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Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pilomatrix karcinom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Calcified epithelial carcinoma of Malherbe"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Calcifying epitheliocarcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Malignant pilomatricoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trichomatrical carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Malignant pilomatricoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trichomatrical carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Calcifying epitheliocarcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Calcified epithelial carcinoma of Malherbe"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maligní pilomatrikom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kalcifikující epiteliokarcinom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Malherbův kalcifikovaný epiteliální karcinom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trichomatrikální karcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"2908","display":"Kindler epidermolysis bullosa","definition":"A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kindlerové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital bullous poikiloderma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kindler syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Poikiloderma of Kindler"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kindlerové poikilodermie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"81","display":"Antisynthetase syndrome","definition":"A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Antisyntetázový syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AS syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ASS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ASyS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anti-ARS syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anti-Jo1 syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anti-aminoacyl-tRNA synthetase syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AS syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Anti-Jo1 syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"499107","display":"Idiopathic optic perineuritis","definition":"A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. 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Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. 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Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rekurentní idiopatická neuroretinitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RINR"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RINR"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499103"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"779","display":"Reynolds syndrome","definition":"Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Reynoldsův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary biliary cirrhosis and systemic scleroderma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární biliární cirhóza a systémová sklerodermie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"838","display":"Susac syndrome","definition":"A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Susacův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinocochleocerebral vasculopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RED-M"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Retinokochleocerebrální vaskulopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Retinopatie, encefalopatie a hluchota asociovaná s mikroangiopatií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SICRET syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikroinfarkty kochleární, retinální a encefalické tkáně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"889","display":"Cutaneous small vessel vasculitis","definition":"A small vessel vasculitis characterized by neutrophilic inflammation predominantly limited to the superficial cutaneous postcapillary venules and without systemic vasculitis or glomerulonephritis. Typical presentation is of unifocal or multifocal palpable purpura on the lower extremities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kožní leukocytoklastická angiitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cutaneous hypersensitivity vasculitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kožní hypersenzitivní vaskulitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kožní leukocytoklastická vaskulitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kožní vaskulitida malých cév"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypersenzitivní angiitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"482","display":"Kimura disease","definition":"A rare systemic disease characterized by chronic inflammation of unknown etiology and occurring predominantly in males in the second to third decades of life, mainly in Southeast Asian countries. Patients present with painless soft tissue swelling most commonly involving the head and neck region, usually with salivary gland involvement (parotid and submandibular glands) and regional lymphadenopathy. Frequent laboratory findings are peripheral eosinophilia and raised serum IgE. The diagnosis is confirmed histopathologically by the presence of well-formed lymphoid follicles with eosinophilic infiltration and vascular proliferation in the biopsy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kimurova choroba"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Eosinophilic lymphogranuloma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Eozinofilní lymfogranulom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"485631","display":"Congenital bile acid synthesis defect","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený defekt syntézy žlučových kyselin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BASD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BASD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"485426","display":"Isolated congenital hepatic fibrosis","definition":"A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná kongenitální jaterní fibróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated CHF"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Isolated CHF"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"486811","display":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","definition":"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinální muskulární atrofie s prenatálním nástupem a s vrozenými zlomeninami"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMABF"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMABF"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"486815","display":"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","definition":"A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou svalovou dystrofii, respirační selhání, abnormality kůže a hyperlaxicitu kloubů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital muscular dystrophy, Davignon-Chauveau type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital muscular dystrophy, Davignon-Chauveau type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená svalová dystrofie typ Davignon-Chauveau"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"485418","display":"EMILIN-1-related connective tissue disease","definition":"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"EMILIN-1-vázaná porucha pojiva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"485421","display":"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MFF asociovaná encefalopatie způsobená poruchou mitochondriálního a peroxizomálního štěpení"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující Leigh-like encefalopatii, optickou atrofii a periferní neuropatii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující Leigh-like onemocnění bazálních ganglií, optickou atrofii a periferní neuropatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"527276"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"485382","display":"Rare genetic premature ovarian failure","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Geneticky podmíněné předčasné ovariální selhání"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485382"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"485405","display":"16p12.1p12.3 triplication syndrome","definition":"16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom triplikace 16p12.1p12.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Tetrasomy 16p12.1p12.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trip(16)(p12.1p12.3)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"485350","display":"CLCN4-related X-linked intellectual disability syndrome","definition":"A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CLCN4-vázaná X-vázaná mentální retardace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Raynaud-Claes syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"485358","display":"Propylthiouracil embryofetopathy","definition":"Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Propylthiouracilová embryofetopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PTU embryofetopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PTU embryopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Propylthiouracil embryopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PTU embryopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PTU embryofetopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Propylthiouracil embryopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PTU embryopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PTU embryofetopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Propylthiouracilová embryopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"485275","display":"Acquired schizencephaly","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaná schizencefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"799"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"482606","display":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome","definition":"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom X-vázaných keloidních jizev, snížené kloubní mobility a zvýšeného poměru jamky a terče"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"482092","display":"Rare idiopathic macular telangiectasia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná idiopatická makulární teleangiektázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482092"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"482601","display":"Adenylosuccinate synthetase-like 1-related distal myopathy","definition":"A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenylosukcinát syntetáza-like 1 vázaná distální myopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADSSL1-related distal myopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADSSL1-related distal myopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADSSL1-vázaná distální myopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"31828","display":"Digitalis poisoning","definition":"A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otrava digitalisem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31828"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"31837","display":"Pulmonary venoocclusive disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plicní venookluzivní nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480864","display":"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome","definition":"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující opakované metabolické encefalopatické krize, rhabdomyolýzu, srdeční arytmie a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TANGO2-related metabolic encephalopathy-arrhythmia syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480907","display":"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom X-vázané intelektové nedostatečnosti, celkového vývojového opoždění, faciálního dysmorfismu a kaudální regrese"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480898","display":"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome","definition":"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vývojové opoždění, abnormality zraku, progresivní mozečkovou atrofii a trunkální hypotonii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480880","display":"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace s faciálním dysmorfismem, malým vzrůstem, choanální atrézií omezená na ženské pohlaví"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom X-vázaného obličejového dysmorfismu, malého vzrůstu, choanální atrézie a mentálního postižení omezený na ženy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"31740","display":"Hypersensitivity pneumonitis","definition":"A rare, immunologically mediated, interstitial lung disease characterized by respiratory symptoms (cough, dyspnea) due to sensitization and subsequent hypersensitivity to environmental antigens. The disorder may be accompanied by systemic manifestations (weight loss, fatigue).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypersenzitivní pneumonitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Extrinsic allergic alveolitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480556","display":"Isolated neonatal sclerosing cholangitis","definition":"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná neonatální sklerotizující cholangoitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480553","display":"Aneurysmal bone cyst","definition":"A rare bone tumor characterized by a benign, cystic lesion consisting of blood-filled cavities divided by fibrous septa containing fibroblasts, multinucleated osteoclast-type giant cells, and reactive woven bone. The tumor may arise <i>de novo</i> or secondarily, complicating other benign or malignant bone tumors. It most commonly arises during the first two decades of life and often affects the epiphyses of long bones and posterior elements of vertebral bodies. Patients typically present with pain and swelling, or neurological symptoms due to compression of nerve roots or the spinal cord by vertebral tumors.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aneuryzmatická kostní cysta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480549","display":"Non-severe combined immunodeficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Méně závažný kombinovaný imunodeficit"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-SCID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Non-SCID"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480549"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"480541","display":"High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement","definition":"A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to <i>de novo</i> cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"High grade B-lymfom s MYC a/nebo BCL2 a/nebo BCL6 přestavbou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"31709","display":"Infantile convulsions and choreoathetosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infantilní konvulze a choreoatetóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ICCA syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Paroxysmal kinesigenic dyskinesia and infantile convulsions"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ICCA syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Paroxysmální kinezigenní dyskineze a infantilní konvulze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"306"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"306"}]},{"code":"31826","display":"Ethylene glycol poisoning","definition":"A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otrava ethylenglykolem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31826"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480851","display":"Hereditary thrombocytopenia with early-onset myelofibrosis","definition":"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. 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Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. 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Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hydranencefalus a brániční syndrom, letální typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480524","display":"Idiopathic peliosis hepatis","definition":"A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická pelióza jater"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic peliosis hepatitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopathic peliosis hepatitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická hepatická pelióza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480524"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480536","display":"MSH3-related polyposis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MSH3-vázaná atenuovaná familiární adenomatózní polypóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSH3-related adenomatous polyposis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSH3-related AFAP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSH3-related attenuated FAP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSH3-related attenuated familial polyposis coli"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSH3-vázaná AFAP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSH3-vázaná atenuovaná FAP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSH3-vázaná atenuovaná familiární polyposis coli"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480531","display":"Congenital portosystemic shunt","definition":"Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený portosystémový shunt"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital portosystemic venous fistula"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital portosystemic venous fistula"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená portosystémová žilní píštěl"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480506","display":"Primary intrahepatic lithiasis","definition":"A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. 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Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cysta choledochu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital cystic dilatation of the biliary tract"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Congenital cystic dilatation of the biliary tract"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená cystická dilatace žlučových cest"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"480520","display":"Caroli syndrome","definition":"A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. 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Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická duktopenie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic adult ductopenia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IAD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IAD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopathic adult ductopenia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická duktopenie v dospělosti"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477811","display":"Rare hypercholesterolemia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná hypercholesterolémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"477814","display":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","definition":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. 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Mildly reduced levels of coagulation factor XI have been reported in addition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit cytosolické fosfolipázy A2 alfa spojený s krvácivostí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLA2G4A-related platelet dysfunction"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PLA2G4A-related platelet dysfunction"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dysfunkce destiček související s PLA2G4A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dysfunkce krevních destiček způsobená deficitem cytosolické fosfolipázy-A2 alfa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"478029","display":"Combined oxidative phosphorylation defect type 29","definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný defekt oxidativní fosforylace, typ 29"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD29"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD29"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"478042","display":"Combined oxidative phosphorylation defect type 30","definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný defekt oxidativní fosforylace, typ 30"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD30"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD30"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477993","display":"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome","definition":"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující anomálie patra, širokými trematy, faciální dysmorfismus a vývojové opoždění"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující anomálii patra, mnohočetná diastemata, obličejový dysmorfismus a opožděný vývoj"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477857","display":"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency","definition":"A rare primary immunodeficiency characterized by increased susceptibility to infections with <i>candida albicans</i> and weakly pathogenic mycobacteria, such as <i>mycobacterium bovis</i>. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní náchylnost k mykobateriózám s mendelovskou dědičností z důvodu kompletního RORC deficitu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSMD due to complete RORgamma receptor defiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary immunodeficiency due to RORC mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autosomal recessive primary immunodeficiency due to RORC mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autosomal recessive MSMD due to complete RORgamma receptor defiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní primární imunodeficience způsobená mutací RORC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní MSMD způsobená kompletní deficiencí receptoru RORgamma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477817","display":"PMP22-RAI1 contiguous gene duplication syndrome","definition":"A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom duplikace přilehlých genů PMP22 a RAI1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"17p11.2p12 microduplication syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(17)(p11.2p12)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 17p11.2-p12"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 17p11.2p12"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Yuan-Harel-Lupski syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(17)(p11.2p12)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trisomy 17p11.2p12"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trisomy 17p11.2-p12"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Yuan-Harel-Lupski syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"17p11.2p12 microduplication syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 17p11.2p12"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 17p11.2-p12"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Yuan-Harel-Lupski syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom mikroduplikace 17p11.2p12"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477831","display":"Kosaki overgrowth syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom nadměrného růstu kostí, kraniofaciálního dysmorfismu, hyperplastické kůže a lézí bílé hmoty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kosaki overgrowth syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kosakiho syndrom přerůstání"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"478049","display":"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome","definition":"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom letálních nekompaktních křečí levé komory, hypotonie, katarakty a opožděného vývoje"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"478664","display":"Hereditary sensory and autonomic neuropathy type 8","definition":"A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditání senzorická a autonomní neuropatie, typ 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSAN8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary sensory and autonomic neuropathy type VIII"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSAN8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditary sensory and autonomic neuropathy type VIII"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná senzorická a autonomní neuropatie typu VIII"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477647","display":"Type 1 interferonopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Interferonopatie, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477647"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"477650","display":"Fibroblastic rheumatism","definition":"A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibroblastický revmatizmus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477668","display":"OBSOLETE: AymÚ-Gripp syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Aymé-Grippové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477668"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1272"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"1272"}]},{"code":"477661","display":"IL21-related infantile inflammatory bowel disease","definition":"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IL21-vázaná zánětlivá nemoc střev s nástupem v kojeneckém věku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IL21-related infantile IBD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IL21-related infantile IBD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IL21-vázaná infantilní IBD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477684","display":"Combined oxidative phosphorylation defect type 26","definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný defekt oxidativní fosforylace, typ 26"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD26"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD26"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477673","display":"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome","definition":"A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. 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Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dětská roztroušená skleróza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477697","display":"OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující hereditární trombocytopenii a predispozici k nádorovým onemocněním"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Familial platelet disorder with predisposition to hematological cancer"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477697"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"71290"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"71290"}]},{"code":"477749","display":"Pontine autosomal dominant microangiopathy with leukoencephalopathy","definition":"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní pontinní mikroangiopatie s leukoencefalopatií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PADMAL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PADMAL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"477742","display":"Nodular fasciitis","definition":"A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nodulární fascitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pseudosarcomatous fasciitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pseudosarcomatous fibromatosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudosarcomatous fasciitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pseudosarcomatous 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well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný defekt oxidativní fosforylace, typ 27"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COXPD27"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COXPD27"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"476116","display":"Demyelinating hereditary motor and sensory neuropathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Demyelinizační hereditární senzomotorická neuropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Demyelinating HMSN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Demyelinating HMSN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Demyelinizační HMSN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476116"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"476119","display":"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","definition":"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní syndrom zahrnující preaxiální polydaktylii a hypertrichózu v horní části zad"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"476109","display":"Axonal hereditary motor and sensory neuropathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Axonální hereditární senzomotorická neuropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Axonal HMSN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Axonal HMSN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Axonální HMSN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476109"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"476113","display":"Combined immunodeficiency due to TFRC deficiency","definition":"A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaný imunodeficit z deficitu TRFC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CID due to TFRC deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TFRC-related combined immunodeficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"476123","display":"Intermediate Charcot-Marie-Tooth disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Středně pokročilá Charcot-Marie-Toothova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermediate CMT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermediate hereditary motor and sensory neuropathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Intermediate hereditary motor and sensory neuropathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Středně těžká dědičná motorická a senzorická neuropatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476123"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"476126","display":"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrognatii, rekurentní infekce, poruchy chování a lehkou mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"476406","display":"Congenital generalized hypercontractile muscle stiffness syndrome","definition":"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kongenitální generalizovaný syndrom hyperkontraktilní svalové ztuhlosti"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"476394","display":"PMP2-related Charcot-Marie-Tooth disease type 1","definition":"A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PMP2 asociovaná Charcot-Marie-Toothova nemoc, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PMP2-related CMT1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PMP2-related Charcot-Marie-Tooth neuropathy type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PMP2-related hereditary motor and sensory neuropathy type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMP2-related CMT1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMP2-related Charcot-Marie-Tooth neuropathy type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMP2-related hereditary motor and sensory neuropathy type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMP2 asociovaná CMT1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMP2 asociovaná Charcot-Marie-Toothova neuropatie typ 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PMP2 asociovaná dědičná motorická a senzorická neuropatie typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"476403","display":"Hypercontractile muscle stiffness syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom hyperkontraktilní svalové ztuhlosti"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476403"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"493342","display":"Vibratory urticaria","definition":"Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vibrační kopřivka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Vibratory angioedema/urticaria"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"493348","display":"OBSOLETE: Vibratory angioedema","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Vibrační angioedém"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493348"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"493342"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"493342"}]},{"code":"488642","display":"TELO2-related intellectual disability-neurodevelopmental disorder","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"TELO2-vázaná mentální retardace s neurovývojovou poruchou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"You-Hoover-Fong syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Youové - Hoover-Fongové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"You - Hoover-Fongové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488647","display":"DDX41-related hematologic malignancy predisposition syndrome","definition":"A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom DDX41-vázané predispozice k hematologickým malignitám"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488650","display":"Distal myopathy, Tateyama type","definition":"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální myopatie, Tateyamův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488618","display":"Transketolase deficiency","definition":"A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit transketolázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short stature-developmental delay-congenital heart defect syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TKT deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit TKT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující malý vzrůst, opožděný vývoj a vrozenou srdeční vadu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488627","display":"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžký růstový deficit, strabizmus, rozsáhlou dermální melanocytózu a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488632","display":"TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (including plagio/brachycephaly, bitemporal narrowing, high-arched eyebrows high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom TBCK-vázané mentální retardace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488635","display":"Early-onset epilepsy-intellectual disability-brain anomalies syndrome","definition":"A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující epilepsii s časným nástupem, mentální retardaci a anomálie mozku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation due to PIGG deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PIGG-CDG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PIGG-CDG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace způsobená deficitem PIGG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488265","display":"Osteofibrous dysplasia","definition":"Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Osteofibrózní dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OFD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"OFD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488239","display":"Acute macular neuroretinopathy","definition":"A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petaloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní makulární neuroretinopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AMNR"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AMNR"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488232","display":"Split-foot malformation-mesoaxial polydactyly syndrome","definition":"A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující rozštěp nohy a mezoaxiální polydaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SFMMP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SFMMP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující rozštěp nohy, mezoaxiální polydaktylii, nehtové abnormality a senzorineurální ztrátu sluchu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488333","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2W","definition":"A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2W"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2W"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2W"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2W podmíněná mutací HARS genu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488280","display":"14q32 duplication syndrome","definition":"14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom duplikace 14q32"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(14)q(32)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 14q32"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(14)q(32)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 14q32"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Predispozice k myeloproliferativnímu novotvaru s nástupem v dospělosti způsobená duplikací 14q32"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488586","display":"Congenital amyoplasia","definition":"A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená amyoplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Amyoplasia congenita"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Amyoplasia congenita"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488437","display":"SIX2-related frontonasal dysplasia","definition":"A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"SIX2-vázaná frontonazální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SIX2-related FND"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SIX2-vázaná FND"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488434","display":"Camptodactyly syndrome, Guadalajara type 3","definition":"Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom kamptodaktylie, guadalajarský typ 3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488613","display":"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome","definition":"A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující celkové opoždění vývoje, neuro-oftalmologické abnormality, záchvaty a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488594","display":"Autosomal recessive spastic paraplegia type 76","definition":"Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 76"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG76"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG76"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488197","display":"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome","definition":"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující familiární progresivní dystrofii sítnice, kolobom duhovky a vrozenou kataraktu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488201","display":"NON RARE IN EUROPE: Non-small cell lung cancer","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Nemalobuněčný karcinom plic"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: NSCLC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NON RARE IN EUROPE: NSCLC"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488201"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488168","display":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","definition":"A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, vrozenou kataraktu a psoriaziformní dermatitidu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMO deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sterol-C4-methyl oxidase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit SMO"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit sterol-C4-metyl oxidázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"488191","display":"Female infertility due to oocyte meiotic arrest","definition":"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ženská neplodnost způsobená zástavou meiózy oocytů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"487796","display":"Takenouchi-Kosaki syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující makrotrombocytopenii, lymfedém, opoždění vývoje, faciální dysmorfismus a kamptodaktylii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Takenouchiho-Kosakiho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Takenouchi-Kosakiho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"487814","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation","definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc typ 2 podmíněná mutací v genu DGAT2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2 due to DGAT2 mutation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2 způsobená mutací DGAT2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"487809","display":"Pediatric collagenous gastritis","definition":"A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dětská kolagenní gastritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Childhood-onset collagenous gastritis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kolagenní gastritida s nástupem v dětství"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"487825","display":"Pierpont syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pierpontové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Plantar lipomatosis-facial dysmorphism-developmental delay syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Plantar lipomatosis-unusual facies-developmental delay syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující plantární lipomatózu, neobvyklou tvář a opoždění vývoje"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující plantární lipomatózu, faciální dysmorfismus a opoždění vývoje"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"486955","display":"Rare pediatric rheumatologic disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná pediatrická revmatologická onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486955"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"31205","display":"Rat-bite fever","definition":"A rare bacterial zoonosis characterized by fever, arthralgia and a rash predominantly affecting the extremities, typically occurring after a bite or scratch from infected rats. The disease may be caused by <i>Streptobacillus moniliformis</i>, also known as streptobacillosis, or by <i>Spirillum minus</i>, also known as sodoku.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Horečka z krysího kousnutí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31205"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"31204","display":"Nocardiosis","definition":"A rare bacterial infection characterized by various clinical manifestations depending on the site of infection, caused by the Gram-positive bacillus <i>Nocardia</i>. The most common presentation is lung infection, which typically follows pathogen inhalation. Dissemination to other organs may occur, especially among immunocompromised patients. Primary skin and soft-tissue infection follows skin inoculation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nokardióza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31204"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"31154","display":"Hypobetalipoproteinemia","definition":"A group of rare hypolipidemias characterized by permanently low plasma levels (below the 5th percentile) of total cholesterol, low density lipoprotein cholesterol and apolipoprotein B. Patients may present with malnutrition, growth delay/failure, fat malabsorption, diarrhea with steatorrhea, low levels/deficiency of liposoluble vitamins A, E, and K, hepatic complications (typically hepatomegaly with steatosis, sometimes cirrhosis), neurological (such as spastic ataxia), neuromuscular and ophthalmologic manifestations including atypical retinitis pigmentosa. Diseases in this group progress more severely when they manifest in early childhood. However, benign hypobetalipoproteinemia is generally asymptomatic and occasionally associated with dietary intolerance to fat, steatorrhea after oral intake of lipids, moderate cytolysis, cholelithiasis, moderately low levels of liposoluble vitamins and acanthocytosis in adults. 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Melioidosis can present itself in many ways, including pneumonia, sepsis and abscess formation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Melioidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Burkholderia pseudomallei 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Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. 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The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. 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Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom aspirace 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Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. 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The syndrome is caused by homozygous mutations in the <i>HOXA1</i> gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). 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Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. 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The tumor most commonly arises in the lung and shows a non-destructive growth pattern.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mimokožní mastocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"67036","display":"Autosomal dominant optic atrophy and cataract","definition":"A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. 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It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mastocytární sarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"66646","display":"Cutaneous mastocytosis","definition":"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kožní mastocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"66637","display":"Diaphanospondylodysostosis","definition":"A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. 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Additional pigmentation abnormalities have not been reported in this syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující senzorineurální ztrátu sluchu, časné šedivění a esenciální tremor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sensorineural deafness-early graying-essential tremor syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"66631","display":"CEDNIK syndrome","definition":"A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CEDNIK syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující cerebrální dysgenezi, neuropatii, ichtiózu a palmoplantární 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clavicle.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená pseudoartróza klavikuly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital pseudarthrosis of the clavicle"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"66629","display":"Goldberg-Shprintzen megacolon 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They are typically benign tumors that can either be localized or diffused. Localized tumors are usually painless, firm and slow growing, detected mostly in the fingers and hand (can also be present in wrist, foot or ankle), and patients are asymptomatic. Diffuse-type tumors are more aggressive and often involve large joints (knee, hip, ankle and shoulder). Symptoms may include joint pain, tenderness, swelling, limitation of motion and hemorrhagic joint effusions. Some localized tumors may recur, however they are usually non-destructive. Recurrences are more common in diffused tumors and can lead to joint instability, degenerative joint disease and significant functional impairment. Rare cases with malignant transformation, presenting as aggressive sarcomas leading to local destruction and metastasis to lymph nodes (particularly inguinal and pelvic) and lungs are also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pigmentovaná vilonodulární synovitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diffuse-type GCT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diffuse-type giant cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TGCT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TSGCT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Difuzní typ GCT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TGCT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TSGCT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Difuzní typ obrovskobuněčného nádoru"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Obrovskobuněčný tumor šlachové pochvy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"66625","display":"Cerebrooculonasal syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormally shaped nose with bilateral proboscis-like nares, bilateral microphthalmia/anophthalmia (exceptionally may be missing in some patients), central nervous system anomalies, neurodevelopmental delay and intellectual disability. 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There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. 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It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Granulomatózní mastitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IGM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic granulomatous mastitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická granulomatózní mastitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64722"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"64720","display":"Leiomyosarcoma","definition":"A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. 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The first, Oroya fever, occurs about 60 days after the fly bite as a severe hemorrhagic fever with high mortality in untreated individuals. The second, chronic phase, termed verruga peruana, can persist for months or years and manifests with endothelial cell-derived, blood-filled tumors developing on the surface of the skin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infekce Bartonella bacilliformis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bartonellosis due to infection with Bartonella bacilliformis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carrion disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Carriónova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bartonelóza způsobená infekcí Bartonella bacilliformis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64692"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"64739","display":"Ovarian hyperstimulation syndrome","definition":"A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. 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Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. 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Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. 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The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pneumokoková meningitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55655"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79217","display":"Other metabolic disease with skin involvement","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jiná metabolická onemocnění doprovázená postižením kůže"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79215","display":"Oligosaccharidosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Oligosacharidóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79214","display":"Disorder of biogenic amine metabolism and transport","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy metabolismu a transportu biogenních aminů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79219","display":"Metabolic disease involving other neurotransmitter deficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Metabolická onemocnění zahrnující ostatní deficity neurotransmiterů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"565837","display":"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23","definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. 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Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. 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Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. 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aminokyselin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79157","display":"2-methylbutyryl-CoA dehydrogenase deficiency","definition":"A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit 2-methylbutyryl-CoA dehydrogenázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methylbutyric aciduria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SBCAD deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short/branched-chain acyl-coA dehydrogenase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"2-methylmáselná acidurie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit SBCAD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Opožděný vývoj způsobený deficitem 2-methylbutyryl-CoA dehydrogenázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit dehydrogenázy acyl-CoA s krátkými/větvenými řetězci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79156","display":"Seizures-intellectual disability due to hydroxylysinuria syndrome","definition":"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující křeče a mentální postižení způsobený hydroxylysinurií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79155","display":"Hydroxykynureninuria","definition":"A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encefalopatie způsobená hydroxykynureninurií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kynureninase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Xanthurenic aciduria"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit kynureninázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Xanthurenická acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79154","display":"2-aminoadipic 2-oxoadipic aciduria","definition":"A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy, and behavioral disorders (most commonly attention deficit hyperactivity disorder). However, many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"2-aminoadipová 2-oxoadipová acidurie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Alpha-aminoadipic aciduria"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Alfa-aminoadipová acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79153","display":"Idiopathic trachyonychia","definition":"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní dysplázie nehtů"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Totální onychodystrofie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trachyonychie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79152","display":"Disseminated superficial actinic porokeratosis","definition":"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Diseminovaná superficiální aktinická porokeratóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79151","display":"Acrokeratosis verruciformis of Hopf","definition":"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hopfova veruciformní akrokeratóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AKV of Hopf"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79150","display":"Linear and whorled nevoid hypermelanosis","definition":"A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní kribriformní a zosteriformní hyperpigmentace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LWNH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lineární a vírovitá névoidní hypermelanóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79149","display":"Dermochondrocorneal dystrophy","definition":"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dermochondrokorneální dystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"François syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Françoisův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79148","display":"Elastosis perforans serpiginosa","definition":"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Elastosis perforans serpiginosa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79147","display":"Familial reactive perforating collagenosis","definition":"Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární reaktivní perforující kolagenóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79146","display":"Familial progressive hyperpigmentation","definition":"Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární progresivní hyperpigmentace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Melanosis diffusa congenita"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Melanosis universalis hereditaria"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Universal melanosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Melanosis diffusa congenita"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Melanosis universalis hereditaria"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Univerzální melanóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79145","display":"Dowling-Degos disease","definition":"A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dowlingova-Degosova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Reticular pigment anomaly of flexures"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Retikulární pigmentové anomálie flexorů"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dowling-Degosova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79144","display":"Isolated congenital onychodysplasia","definition":"A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená onychodysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COIF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COIF syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital onychodysplasia of the index fingers"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Iso-Kikuchi syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COIF"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COIF syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Isov-Kukuchiho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená onychodysplázie postihující ukazováčky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79143","display":"Isolated congenital anonychia","definition":"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná vrozená anonychie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated anonychia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaná anonychie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79142","display":"NON RARE IN EUROPE: Familial Dupuytren contracture","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Familiární Dupuytrenova kontraktura"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79142"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79172","display":"Creatine deficiency syndrome","definition":"Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom deficitu kreatinu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CCDS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebral creatine deficiency syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom nedostatku mozkového kreatinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79173","display":"Disorder of methionine cycle and sulfur amino acid metabolism","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy methioninového cyklu a metabolismu sirných aminokyselin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cytosolic methyl group transfer or sulfur amino acid metabolism disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Poruchy cytosolového přenosu methylových skupin nebo metabolismu sirných aminokyselin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79171","display":"Disorder of cobalamin metabolism and transport","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy metabolismu a transportu kobalaminu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79168","display":"Disorder of bile acid synthesis","definition":"A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy syntézy žlučových kyselin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79169","display":"Disorder of neurotransmitter metabolism and transport","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy metabolismu a transportu neurotransmiterů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79166","display":"Disorder of amino acid absorption and transport","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy vstřebávání a transportu aminokyselin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79167","display":"Disorder of urea cycle metabolism and ammonia detoxification","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy močovinového cyklu a detoxikace amoniaku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79163","display":"Classic organic aciduria","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klasická organická acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79161","display":"Disorder of carbohydrate metabolism","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy metabolismu sacharidů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79158","display":"Cerebral organic aciduria","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cerebrální organická acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"79159","display":"Isobutyryl-CoA dehydrogenase deficiency","definition":"A rare organic aciduria characterized by isolated elevation of C4-acylcarnitine. Patient may be asymptomatic (notably during the early childhood) or may present with anemia, dilated cardiomyopathy, mild peripheral pulmonary stenosis, and carnitine deficiency. Mild developmental delay, speech delay, muscle hypotonia, emesis and dehydration have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit izobutyryl-CoA dehydrogenázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isobutyric aciduria"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izomáselná acidurie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79107","display":"Developmental malformations-deafness-dystonia syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of sensorineural hearing loss and a delayed-onset (usually generalized, but may be partial) dystonia syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vývojové malformace, hluchotu a dystonii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Developmental malformations-hearing loss-dystonia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DJO"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dystonie s nástupem v dětství"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"566231","display":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha","definition":"A rare thyroid hormone signaling disorder characterized by a reduced T4/T3 ratio and normal levels of thyroid-stimulating hormone. The clinical phenotype variably includes neurodevelopmental delay (motor and cognitive), chronic constipation, anemia, disproportionate short stature and delayed bone age, skin tags, decreased metabolic rate, mild bradycardia, delayed teeth eruption and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, coarse facies, flattened nasal bridge, macroglossia, and thick lips can be present. Disease manifestations may vary from very mild to severe.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rezistence na hormony štítné žlázy způsobené mutací v receptoru alfa pro hormony štítné žlázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RTHa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Resistance to thyroid hormone alpha"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Resistance to thyroid hormone due to a mutation in TRa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79106","display":"Eiken syndrome","definition":"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Eikenův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"566243","display":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta","definition":"A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rezistence na hormony štítné žlázy způsobené mutací v receptoru beta pro hormony štítné žlázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RTHb"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Resistance to thyroid hormone beta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Resistance to thyroid hormone due to a mutation in TRb"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79118","display":"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome","definition":"A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující neonatální diabetes, vrozený hypothyroidismus, vrozený glaukom, jaterní fibrózu a polycystické ledviny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"566393","display":"Acute mast cell leukemia","definition":"A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. 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These episodes vary in duration, lasting from 2 to 72&nbsp;hours, and in severity, ranging from paresis to complete paralysis. 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The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. 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The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hyperprolinémie typu II"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit delta-1-pyrrolin-5-karboxylát dehydrogenázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"566192","display":"Congenital autosomal recessive small-platelet thrombocytopenia","definition":"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená autozomálně recesivní trombocytopenie malých krevních destiček"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CARST"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79100","display":"Atrophoderma vermiculata","definition":"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atrophoderma vermiculata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Folliculitis ulerythematosa reticulate"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Folliculitis ulerythematosa reticulate"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79095","display":"Congenital bile acid synthesis defect type 4","definition":"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená porucha syntézy žlučových kyselin, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"2-methylacyl-CoA racemase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AMACR deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Alpha-methyl-acyl-CoA racemase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BASD4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit 2-methylacyl-CoA racemázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit AMACR"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit alfa-methyl-acyl-CoA racemázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující onemocnění jater, retinitis pigmentosa, polyneuropatii a epilepsii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79094","display":"Grange syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). 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The disease course is less aggressive than in the acute form, although patients may later progress.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická mastocytární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic MCL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"98851"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"79126","display":"Acute interstitial pneumonia","definition":"A rare, rapidly progressive, and histologically distinct, form of idiopathic interstitial pneumonia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní intersticiální pneumonie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute interstitial pneumonitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hamman-Rich syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní intersticiální pneumonitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hammanův-Richův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hamman-Richův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79127","display":"Respiratory bronchiolitis-interstitial lung disease syndrome","definition":"Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující respirační bronchiolitidu a intersticiální plicní chorobu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RB-ILD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"RB-ILD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79128","display":"Lymphoid interstitial pneumonia","definition":"A rare idiopathic interstitial pneumonia characterized by a diffuse, dense, polyclonal lymphoid cell infiltration of the pulmonary interstitium and air spaces, with high prevalence in patients with immune dysregulation. Presenting symptoms are non-specific and include dyspnea and cough. The clinical course is highly variable, ranging from spontaneous resolution to progressive, fatal respiratory failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymfoidní intersticiální pneumonie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lymphocytic interstitial pneumonia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lymfatická intersticiální 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Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. 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The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. 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It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Centrální neurocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"73260","display":"Paracoccidioidomycosis","definition":"A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison's disease. The infectious agent, <i>Paracoccidioides brasiliensis</i>, is a fungus limited to Latin America.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paracokcidioidomykóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73260"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"73246","display":"Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). 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The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený primární lymfedém Gordonové"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VEGFC-related congenital primary lymphedema"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"73423","display":"Acute ackee fruit intoxication","definition":"A rare disorder due to poisoning caused by the ingestion of unripe Blighia sapida fruits, clinically characterized by toxic hypoglycaemia and inhibition of neoglucogenesis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní intoxikace ovocem ackee"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute intoxication by Blighia sapida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jamaican vomiting sickness"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jamaican vomiting syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní intoxikace ovocem akee"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní intoxikace Blighia sapida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jamajská nemoc zvracení"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jamajský syndrom zvracení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73423"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"569816","display":"CELSR1-related late-onset primary lymphedema","definition":"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. 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Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. 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Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. 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Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. 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Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spinální svalovou atrofii, Dandyho-Walkerovu malformaci a kataraktu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující spinální svalovou atrofii, Dandy-Walkerovu malformaci a kataraktu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"73230","display":"Ossification anomalies-psychomotor developmental delay syndrome","definition":"A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. 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The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární kožní kolagenom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53347","display":"Brody myopathy","definition":"A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without <i>ATP2A1</i> mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brodyho myopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"52994","display":"Orbital leiomyoma","definition":"Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leiomyom orbity"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53035","display":"Caroli disease","definition":"Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Caroliho nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"52759","display":"Vasculitis","definition":"Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease) to relatively minor skin disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vaskulitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Systemic vasculitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Systémová vaskulitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52759"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"52901","display":"Isolated follicle stimulating hormone deficiency","definition":"A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaný deficit folikulostimulačního hormonu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated FSH deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaný deficit FSH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53690","display":"Congenital lactase deficiency","definition":"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený deficit laktázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená laktózová intolerance"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53689","display":"Congenital chloride diarrhea","definition":"A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený průjem s poruchou chloridů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"538863","display":"Classic pyoderma gangrenosum","definition":"A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klasická pyoderma gangrenosum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ulcerative pyoderma gangrenosum"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ulcerózní pyoderma gangrenosum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"48104"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"538756","display":"Familial multiple discoid fibromas","definition":"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or <i>FLCN</i> gene locus mutation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární četné diskoidní fibromy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial multiple trichodiscomas"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární četné trichodiskomy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"538574","display":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","definition":"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near&#8208;normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující palmoplantární keratodermu a hereditární motorickou a senzorickou neuropatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující palmoplantární keratodermu a Charcot-Marie-Toothovu chorobu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53583","display":"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity","definition":"A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paroxysmální dystonická choreoatetóza s epizodickou ataxií a spasticitou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYT9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Episodic choreoathetosis/spasticity"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYT9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Epizodická choreoatetóza/spasticita"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53540","display":"Goldmann-Favre syndrome","definition":"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Goldmannův-Favreův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ESCS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Enhanced S-cone syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinoschisis with early nyctalopia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zesíleného S-čípku"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Retinoschíza s časnou nyktalopií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Goldmann-Favreův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53372","display":"Hereditary geniospasm","definition":"A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may present more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární geniospasmus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary chin myoclonus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary chin-trembling"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial trembling of the chin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární třes brady"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný myoklonus 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Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázané lymfoproliferativní onemocnění způsobené deficitem XIAP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"XIAP deficiency syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"XLP2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked lymphoproliferative syndrome type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"XLP2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"XIAP deficit"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaný lymfoproliferativní syndrom, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"54251","display":"Aseptic abscess syndrome","definition":"A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom aseptického abscesu senzitivního na kortikosteroidy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aseptic abscesses syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aseptic systemic abscesses"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Corticosteroid-sensitive aseptic abscess syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Disseminated aseptic abscesses"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom aseptického abscesu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Aseptické systémové abscesy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Diseminované aseptické abscesy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"538931","display":"X-linked lymphoproliferative disease due to SAP deficiency","definition":"A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked <i>SH2D1A</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. 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characterized by the classic triad of iron-deficiency anemia, dysphagia, and esophageal webs. It predominantly affects Caucasian women aged 40-70&nbsp;years, although pediatric cases have been reported. Dysphagia is usually painless, intermittent or progressive over several years, and limited to solids; it is sometimes associated with weight loss, while anemia-related symptoms such as fatigue and pallor may predominate. Additional signs include glossitis, angular cheilitis, and koilonychia. Splenomegaly and thyroid enlargement may occur. Iron deficiency is considered a major potential etiological factor. 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This segmental distribution may involve one or many of the 31 metameres present in humans. 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A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myopatie s hyalinními tělísky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hyaline body myopathy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"53715","display":"Familial tumoral calcinosis","definition":"A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. 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Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. 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Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. 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Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. 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Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bulózní pyoderma gangrenosum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Phemphigoid pyoderma gangrenosum"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pemfigoidní pyoderma gangrenosum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"48104"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"538866","display":"Pustular pyoderma gangrenosum","definition":"A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. 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Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. 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Autosomal recessive inheritance has been suggested.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Talopatelloskafoidální osteolýza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Singh-Williams-McAlister syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Singhův-Williamsové-McAlisterův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Singh-Williams-McAlisterův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"50810","display":"Microlissencephaly-micromelia syndrome","definition":"Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. 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Autosomal recessive inheritance has been suggested.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lipodystrofii, mentální retardaci a hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lipodystrophy-intellectual disability-hearing loss syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rajab-Spranger syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rajabové-Sprangerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rajab-Sprangerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"50812","display":"Zellweger-like syndrome without peroxisomal anomalies","definition":"A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. 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Patients usually present with short stature, significant hypertelorism and eye abnormalities (early onset cataract and other lens abnormalities, esotropia, optic atrophy). Associated facial features include abnormal hair (sparce and brittle), hyperpigmentation with capillary hemangioma on the forehead, macrocephaly, frontal bossing, wide nasal bridge, long philtrum, large mouth, thin vermilion, high arched palate and abnormal dentition. Other associated morphological abnormalities include vertebral wedging with scoliosis, high and narrow iliac wings, pectus excavatum, joint hypermobility and flat feet.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniolentikulosuturální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Boyadjiev-Jabs syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Boyadjievův-Jabsové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Boyadjiev-Jabsové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"50815","display":"Branchiogenic deafness syndrome","definition":"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. 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Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. 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Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Keratosis palmoplantaris striata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Keratosis palmoplantaris striata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Keratosis palmoplantaris striata et areata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Keratosis palmoplantaris varians of Wachters"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Keratosis palmoplantaris striata et areata"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Wachtersova keratosis palmoplantaris varians"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Striatární palmoplantární keratoderma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"50920","display":"OBSOLETE: Multiple fibroadenoma of the breast","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Mnohočetné fibroadenomy prsu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Mammary polyadenomatosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Mammární polyadenomatóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50920"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"180253"}]},{"code":"50918","display":"Kikuchi-Fujimoto disease","definition":"A rare systemic disease characterized by subacute, necrotizing, regional lymphadenopathy with tenderness, usually accompanied with mild fever, night sweats, myalgia, leukopenia and anemia. Less frequent symptoms include weight loss, nausea, vomiting and sore throat. It is a self-limiting benign disease that usually recedes within six months, even without drug treatment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kikuchiho-Fujimotova choroba"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Histiocytic necrotizing lymphadenitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kikuchi disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Histiocytární nekrotizující lymfadenitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kikuchiho nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kikuchi-Fujimotova choroba"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"52054","display":"Craniosynostosis-intracranial calcifications syndrome","definition":"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kraniosynostózu a intrakraniální kalcifikaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Longman-Tolmie syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Longmanové-Tolmieho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Longman-Tolmieho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"52022","display":"Potocki-Shaffer syndrome","definition":"A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Potocké-Shafferové syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"11p11.2 deletion"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Proximal 11p deletion syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Delece 11p11.2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom proximální delece 11p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Potocki-Shafferové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"52047","display":"Braddock syndrome","definition":"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Braddockův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom podobný VATER syndromu s plicní hypertenzí, abnormálníma ušima a růstovým deficitem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"51577","display":"Cobblestone lissencephaly","definition":"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lissencefalie, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lissencephaly type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cobblestone lissencefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"51608","display":"Generalized arterial calcification of infancy","definition":"A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná arteriální kalcifikace u kojenců"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic infantile arterial calcification"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Idiopathic obliterative arteriopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile arteriosclerosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Occlusive infantile arteriopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická kojenecká arteriální kalcifikace"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Idiopatická obliterativní arteriopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kojenecká arterioskleróza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Okluzivní kojenecká arteriopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"51188","display":"Ethylmalonic encephalopathy","definition":"A rare, early-onset, progressive neurologic disease characterized by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ethylmalonová encefalopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"541423","display":"Growth delay-intellectual disability-hepatopathy syndrome","definition":"A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující opoždění vývoje, mentální retardaci a hepatopatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"51208","display":"Formiminoglutamic aciduria","definition":"A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Formiminoglutamová acidurie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FTCD deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Formiminotransferase cyclodeaminase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Glutamate formiminotransferase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit FTCD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit formiminotransferáza-cyklodeaminázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit glutamát formimidoyltransferázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"541507","display":"Anomalous origin of coronary artery from the pulmonary artery","definition":"A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomální odstup koronární tepny z plicnice"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ACAPA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"541478","display":"Anomalous aortic origin of coronary artery","definition":"A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomální aortální odstup koronární tepny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AAOCA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AAOCA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"51636","display":"WHIM syndrome","definition":"WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"WHIM syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"WILM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Warts-hypogammaglobulinemia-infections-myelokathexis syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Warts-infections-leukopenia-myelokatexis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"WILM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující bradavice, hypogamaglobulinémii, infekce a myelokathexii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující bradavice, infekce, leukopenii a myelokathexii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"541454","display":"Anomalous aortic origin of the right coronary artery","definition":"A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. 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Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. 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Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci a srdeční arytmii způsobený deficitem GNB5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542301","display":"EBV-induced lymphoproliferative disease due to CARMIL2 deficiency","definition":"A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Závažná kombinovaná imunodeficience způsobená deficitem CARMIL2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Závažná kombinovaná imunodeficience způsobená deficitem RLTPR"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542310","display":"Leukoencephalopathy with calcifications and cysts","definition":"A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leukoencefalopatie s kalcifikacemi a cystami"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LCC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Labrune syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LCC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Labrunův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"68419","display":"Rare vascular anomaly","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vaskulární anomálie nebo angiomy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68419"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"42642","display":"PFAPA syndrome","definition":"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PFAPA syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Marshall syndrome with periodic fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Marshallův syndrom s periodickou horečkou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující periodickou horečku, aftózní stomatitidu, faryngitidu a adenopatii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"42665","display":"Tietz syndrome","definition":"Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Tietzův syndrom zahrnující albinismus a hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypopigmentation-deafness syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypopigmentation-hearing loss syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hypopigmentaci a hluchotu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TADS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542323","display":"T-cell based immunotherapy-associated cytokine release syndrome","definition":"A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom uvolnění cytokinů spojený s CAR T-buněčnou terapií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-cell based immunotherapy-associated CRS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"43117","display":"Acute tricyclic antidepressant poisoning","definition":"A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní otrava tricyklickými antidepresivy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43117"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542585","display":"Auditory neuropathy-optic atrophy syndrome","definition":"A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. 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The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Necrobiosis lipoidica"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oppenheim-Urbach disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Oppenheimova-Urbachova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Oppenheim-Urbachova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"43393","display":"Lambert-Eaton myasthenic syndrome","definition":"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lambertův-Eatonův myastenický syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lambert-Eatonův myastenický syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"43119","display":"Acute poisoning by drugs with membrane-stabilizing effect","definition":"A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní otrava léky s membrány-stabilizujícím efektem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43119"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542643","display":"Livedoid vasculopathy","definition":"A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Livedoidní vaskulopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Livedo reticularis with summer ulcerations"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Milian atrophie blanche"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Segmental hyalinizing vasculitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Milianova bílá atrofie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Segmentální hyalinizující vaskulitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Livedo reticularis s letními ulceracemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"42775","display":"PHACE syndrome","definition":"A rare infantile hemangioma characterized by the association of anomalies of Posterior fossa brain malformations, segmental infantile large facial or neck Hemangiomas, Arterial anomalies (usually of the head and neck or the arteries supplying the brain), aortic coarctation and other Cardiac anomalies, and Eye abnormalities (acronym PHACE). 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The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. 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Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující optickou atrofii, ataxii, periferní neuropatii a celkové opoždění vývoje"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"45453","display":"Incessant infant ventricular tachycardia","definition":"Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Incesantní kojenecká komorová tachykardie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"45452","display":"Idiopathic neonatal atrial flutter","definition":"Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatický novorozenecký síňový flutter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542657","display":"Isolated hyperchlorhidrosis","definition":"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná hyperchlorhidróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbonic anhydrase XII deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit karbonické anhydrázy XII"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"542822","display":"Anomaly of the coronary ostia","definition":"A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomálie koronárního ostia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"44890","display":"Gastrointestinal stromal tumor","definition":"Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. 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Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. 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triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. 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Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibrohistiocytický zánětlivý pseudotumor jater"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"90003"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"555407","display":"NAD(P)HX epimerase deficiency","definition":"A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. 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The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. 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Hyperextensible skin and joint hypermobility have been reported in some patients. 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The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IgA pemfigus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"68380","display":"Mitochondrial disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mitochondriální porucha"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"68383","display":"Rare constitutional aplastic anemia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná konstituční aplastická anémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"556030","display":"Early-onset familial hypoaldosteronism","definition":"A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. 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Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kalcifikující leukoencefalopatie s časným nástupem a kostní dysplázií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BANDDOS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brain abnormalities-neurodegeneration-dysosteosclerosis disease"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"556955","display":"Pancreatic agenesis-holoprosencephaly syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom ageneze pankreatu a holoprosencefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"556508","display":"Rare disorder due to poisoning","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné onemocnění v důsledku otravy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556508"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"68402","display":"Rare parkinsonian disorder","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná parkinsonská porucha"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare hypokinetic movement disorder"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68402"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"557064","display":"Neonatal epileptic encephalopathy due to glutaminase deficiency","definition":"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. 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Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spastické ataxie-dysartrie z glutaminázového deficitu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"557003","display":"Oculoskeletodental syndrome","definition":"A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. 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It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získané subarachnoideální krvácení z aneuryzmatu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519392","display":"Isolated iridoschisis","definition":"A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. 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Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. 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It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná blefarochaláza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519396","display":"Isolated microspherophakia","definition":"A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná mikrosférofakie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519394","display":"OBSOLETE: Isolated microphakia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Izolovaná mikrofakie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519394"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"519396"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"519396"}]},{"code":"90068","display":"Cocaine intoxication","definition":"A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Intoxikace kokainem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90068"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90061","display":"Non-infectious posterior uveitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neinfekční zadní uveitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-infectious choroiditis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neinfekční choroiditida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90061"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"519384","display":"Congenital cystic eye","definition":"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený cystický oční bulbus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital anophthalmos with cyst"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519357","display":"OBSOLETE: Syndromic malformation of the optic disc","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndromická malformace terče zrakového nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519357"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"519345"}]},{"code":"90062","display":"Acute liver failure","definition":"A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní selhání jater"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute hepatic failure"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fulminant hepatic failure"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní jaterní selhání"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519388","display":"Autosomal recessive anterior segment dysgenesis","definition":"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní dysgeneze předního segmentu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90064","display":"Acute peripheral arterial occlusion","definition":"A rare vascular condition characterized by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paresthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní periferní arteriální okluze"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní periferní uzávěr arterie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90064"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519386","display":"Isolated congenital entropion","definition":"A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolované vrozené entropium"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519408","display":"Mooren ulcer","definition":"A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Moorenův vřed"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519408"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90073","display":"Hepatitis B reinfection following liver transplantation","definition":"A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Reinfekce virem hepatitidy B následující po transplantaci jater"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519406","display":"Thygeson superficial punctate keratitis","definition":"A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Thygesonova keratopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thygeson superficial punctate keratopathy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519406"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519410","display":"Terrien marginal degeneration","definition":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Terrienova marginální degenerace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519410"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90076","display":"Partial deep dermal and full thickness burns","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Popáleniny druhého a třetího stupně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90069","display":"Systemic monochloroacetate poisoning","definition":"Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Systémová otrava monochlóracetátem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90069"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519400","display":"Peripapillary staphyloma","definition":"A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Peripapilární stafylom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90070","display":"OBSOLETE: Methotrexate poisoning","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Otrava methotrexátem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Methotrexate intoxication"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90070"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"565782"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"565782"}]},{"code":"519398","display":"Isolated foveal hypoplasia","definition":"A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná foveální hypoplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519398"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519404","display":"Optic disc pit","definition":"A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jamka terče zrakového nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"519402","display":"Isolated megalopapilla","definition":"A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná megalopapila"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90050","display":"Retinopathy of prematurity","definition":"A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Retinopatie nedonošených"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ROP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retrolental fibroplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ROP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Retrolentální 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It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lokalizovaná forma sklerodermie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Localized fibrosing scleroderma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lokalizovaná fibrotizující sklerodermie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cirkumskriptní sklerodermie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90301","display":"Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome","definition":"This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující acanthosis nigricans, inzulinovou rezistenci, svalové křeče a akrální zvětšení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90291","display":"Systemic sclerosis","definition":"Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Systémová skleróza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Systemic scleroderma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Systémová sklerodermie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90308","display":"Capillary-lymphatic-venous malformation with segmental distribution","definition":"A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klippelova-Trenaunayova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CLVM with segmental distribution"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KTS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Klippel-Trénaunay syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Klippel-Trenaunayova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90307","display":"Parkes Weber syndrome","definition":"A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. 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Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Centrifugální lipodystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lipodystrophia centrifugalis abdominalis infantilis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lipodystrophia centrifugalis abdominalis infantilis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90157","display":"Drug-induced localized lipodystrophy","definition":"Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lokalizovaná lipodystrofie vyvolaná léky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lipoatrophy caused by injected drug"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90153","display":"Mandibuloacral dysplasia with type A lipodystrophy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mandibuloakrální dysplázie s lipodystrofií typu A"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MADA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2457"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"90154","display":"Mandibuloacral dysplasia with type B lipodystrophy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mandibuloakrální dysplázie s lipodystrofií typu B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2457"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"90160","display":"Pressure-induced localized lipoatrophy","definition":"Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lokalizovaná lipoatrofie vyvolaná tlakem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lipoatrophia semicircularis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Semicircular lipoatrophy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90158","display":"Idiopathic localized lipodystrophy","definition":"Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická lokalizovaná lipodystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90159","display":"Panniculitis-induced localized lipodystrophy","definition":"Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Panniculitida a lokalizovaná lipodystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90280","display":"Chilblain lupus","definition":"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chilblain lupus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90281","display":"Discoid lupus erythematosus","definition":"A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Diskoidní lupus erythematodes"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90185","display":"Non-hereditary late-onset primary lymphedema","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nedědičný primární lymfedém s pozdním nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Meige-like disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nemoc podobná Meigeho nemoci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90185"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"90186"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"90186"}]},{"code":"90186","display":"Meige disease","definition":"Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Meigeho choroba"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary lymphedema type II"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Meige lymphedema"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární lymfedém, typ II"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární lymfedém s pozdním nástupem"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Meigeho lymfedém"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90285","display":"Lupus erythematosus panniculitis","definition":"A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lupus erythematodes panniculitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lupus erythematosus profundus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lupus erythematodes profundus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90287","display":"OBSOLETE: Maculopapular lupus rash","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Makulopapulární lupusová vyrážka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90287"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"535"}]},{"code":"90282","display":"Hypertrophic or verrucous lupus erythematosus","definition":"Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypertrofický nebo verukózní lupus erythematodes"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90282"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90283","display":"Lupus erythematosus tumidus","definition":"A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lupus erythematodes tumidus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermittent cutaneous lupus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90080","display":"Scarring in glaucoma filtration surgical procedures","definition":"A rare ophthalmic condition characterized by formation of excessive scar tissue between the conjunctiva/Tenon capsule and the sclera at the surgical site following glaucoma filtration surgery. Scarring can occur months or years after surgery, resulting in treatment failure with poor postoperative control of intraocular pressure and, potentially, loss of vision.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jizvení po trabekulektomii pro glaukom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90079","display":"OBSOLETE: Anthracycline extravasation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Extravazace u léčby antracykliny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90079"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"306640"}]},{"code":"90078","display":"Invasive infections due to vancomycin-resistant enterococci","definition":"A rare bacterial infectious disease characterized by invasive infection with vancomycin-resistant enterococci (VRE), typically after VRE colonization of the gastrointestinal tract or the skin in healthcare settings. Invasive infection most commonly occurs in immunocompromised individuals and patients with breaches in normal defensive barriers (such as intravascular lines or urinary catheters). Patients may develop urinary tract infection, bacteremia, and endocarditis, as well as infections of the abdomen, pelvis, biliary tract, and wounds. Less frequent infection sites include the bone, joints, and meninges, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Invazivní infekce způsobená vankomycin-rezistentními enterokoky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Invasive infections due to VRE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Invazivní infekce způsobená VRE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90078"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90077","display":"Other acquired skin disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jiné získané kožní nemoci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"90103","display":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome","definition":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc, hluchotu a mentální retardaci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT-deafness-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární motorická a senzorická neuropatie s hluchotou, mentální retardací a absencí velkých senzorických myelinizovaných vláken"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující Charcot-Marie-Toothovu nemoc, hluchotu a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"514980","display":"ATP13A2-related parkinsonism","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ATP13A2-vázaný parkinsonismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"90081","display":"AIDS wasting syndrome","definition":"A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterized by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhea or weakness and fever which have lasted at least 30 days and are not related to an infection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"AIDS syndrom chřadnutí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90118","display":"Severe early-onset axonal neuropathy due to MFN2 deficiency","definition":"Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká axonální neuropatie s časným nástupem na podkladě deficitu MFN2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AR-CMT2, Ouvrier type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEOAN due to MFN2 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AR-CMT2, Ouvrierův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, Ouvrierův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SEOAN na podkladě deficitu MFN2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní Charcot-Marie-Toothova nemoc, Ouvrierův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90117","display":"Hereditary motor and sensory neuropathy, Okinawa type","definition":"Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární motorická a senzorická neuropatie, typ Okinawa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HMSNP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary motor and sensory neuropathy, proximal type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HMSNP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná motorická a senzorická neuropatie, proximální typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90114","display":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMTDI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMTDI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"90120","display":"Hereditary motor and sensory neuropathy type 6","definition":"A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. 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While the skeletal manifestations primarily affect the hands and feet, more generalized bone involvement including mesomelic bowing and/or shortening of the arms and legs have also been reported. Some patients may also present with craniofacial dysmorphism including midface hypoplasia, hypertelorism, ptosis, coloboma of the iris and eyelids, low-set ears, depressed nasal bridge, and multiple hypertrophic frenula. Additional clinical features may include short stature, short broad thorax, scoliosis, atrial septal defect and ventricular septal hypertrophy, pulmonary artery stenosis and anal stenosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující terminální kostní dysplázii a pigmentové defekty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"522546","display":"Rare genetic disorder with lens opacification","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná genetická porucha s opacitou čočky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522546"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"522538","display":"Rare genetic disorder of the anterior segment of the eye","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná genetická porucha předního segmentu oka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522538"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"88620","display":"Isolated congenital anosmia","definition":"A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná vrozená anosmie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"522540","display":"Anterior segment developmental anomaly of genetic origin","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Geneticky podmínaná vývojová anomálie předního segmentu oka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522540"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"88619","display":"Familial acute necrotizing encephalopathy","definition":"Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární akutní nekrotizující encefalopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADANE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Recurrent acute necrotizing encephalopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADANE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rekurentní akutní nekrotizující encefalopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"88618","display":"S-adenosylhomocysteine hydrolase deficiency","definition":"A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already <i>in utero</i> or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Psychomotorická retardace způsobená deficitem S-adenosylhomocystein hydrolázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypermethioninemie způsobená deficitem S-adenosylhomocystein 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Autosomal recessive forms typically present with severe-to-profound congenital hearing loss, while autosomal dominant forms more commonly show progressive postlingual onset.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nesyndromová geneticky podmíněná hluchota"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare isolated genetic deafness"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare isolated genetic hearing loss"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rare non-syndromic genetic hearing loss"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Izolovaná geneticky podmíněná hluchota"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"87876","display":"Sialidosis type 2","definition":"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. 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Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. 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It has been described in eight members of one family and in two sporadic cases. 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It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lymfedém, defekty síňového septa a faciální změny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Irons-Bhan syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Irons-Bianchi syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ironsové-Bianchiové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Irons-Bianchiové syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"522077","display":"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome","definition":"A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kojeneckou hypotonii, okulomotorické anomálie, hyperkinetické pohyby a opoždění vývoje"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BAGOS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Baker-Gordon syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SYT1-related neurodevelopmental disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SYT1-vázaná neurovývojová porucha"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"522043","display":"Syndromic autoimmune enteropathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndromická autoimunitní enteropatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"86913","display":"OBSOLETE: Myoclonic epilepsy in non-progressive encephalopathies","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Myoklonická epilepsie u neprogresivních encefalopatií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Myoclonic status in non-progressive encephalopathies"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Myoclonus epilepsy in non-progressive encephalopathies"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"693802"}]},{"code":"522037","display":"Primary autoimmune enteropathy","definition":"A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární autoimunitní enteropatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86914","display":"Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome","definition":"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lymfedém a arteriovenózní anomálie v mozku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86909","display":"Myoclonic epilepsy of infancy","definition":"A rare infantile epilepsy syndrome characterized by an infantile-onset of sudden, frequent and generalized myoclonic seizures that occur in neurologically and developmentally normal patients, and later resolve during childhood with a generally favorable outcome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myoklonická epilepsie u kojenců"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Benign myoclonic epilepsy of infancy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Benign myoclonus epilepsy of infancy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MEI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Benigní myoklonická epilepsie kojenců"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86911","display":"Epilepsy with myoclonic absences","definition":"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epilepsie s myoklonickými absencemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86906","display":"Gelastic seizures with hypothalamic hamartoma","definition":"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypotalamické hamartomy s gelastickými záchvaty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GS-HH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypothalamic hamartoma with gelastic seizures"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86908","display":"Hemiconvulsion-hemiplegia-epilepsy syndrome","definition":"A rare childhood-onset epilepsy syndrome characterized by hemiplegia occurring in children (typically under the age of 4) following prolonged focal seizures, often febrile in nature. The condition progresses through three stages: initial prolonged seizures, subsequent hemiplegia (weakness or paralysis on one side of the body), and eventual epilepsy, following a latent period. The condition may be idiopathic or associated with structural, infectious, traumatic, or degenerative brain abnormalities. Patients present with acute unilateral brain swelling, followed by cerebral hemiatrophy. Inflammation, genetic predisposition, and prolonged seizure activity may play a role in the disease development/progression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatický syndrom hemikonvulze a hemiplegie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IHHS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HHE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HHE syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HHE syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hemikonvulzi, hemiplegii a epilepsii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IHHS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86903","display":"Dendritic cell sarcoma not otherwise specified","definition":"A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sarkom z dendritických buněk jinak nespecifikovaný"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521450","display":"LAMA5-related multisystemic syndrome","definition":"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"LAMA5-vázaný multisystémový syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521445","display":"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome","definition":"A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, faciální dysmorfismus, oční vady a mnohočetné vrozené vady"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86904","display":"Methotrexate-associated lymphoproliferative disorders","definition":"Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymfoproliferativní nemoci asociované s methotrexátem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MTX-LPD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MTX-associated lymphoproliferative disorders"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521438","display":"Congenital vertebral-cardiac-renal anomalies syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozené vady páteře, srdce a ledvin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital NAD deficiency disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha deficitu NAD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86900","display":"Interdigitating dendritic cell sarcoma","definition":"A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sarkom z interdigitujících dendritických buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Interdigitating cell sarcoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Reticulum cell sarcoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sarkom z interdigitujících buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521432","display":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome","definition":"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou kataraktu, těžkou novorozeneckou hepatopatii a celkové opoždění vývoje"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86902","display":"Follicular dendritic cell sarcoma","definition":"A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sarkom z folikulárních dendritických buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521426","display":"PLAA-associated neurodevelopmental disorder","definition":"A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neurovývojová porucha asociovaná s PLAA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLAAND"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PLAAND"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86896","display":"Histiocytic sarcoma","definition":"A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Histiocytární sarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521414","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2DD","definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2DD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ATP1A1-related CMT2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2DD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2DD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ATP1A1-vázaná CMT2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ATP1A1-vázaná autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86897","display":"Langerhans cell sarcoma","definition":"A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sarkom z Langerhansových buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521258","display":"Xq25 microduplication syndrome","definition":"A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom mikroduplikace Xq25"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(X)(q25)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Xq25 microtriplication"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(X)(q25)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"89832","display":"OBSOLETE: Syndromic lymphedema","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndromický lymfedém"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89832"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"521268","display":"Sodium-dependent multivitamin transporter deficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"SLC5A6-CDG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace související s SLC5A6"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"89826","display":"Rare skin disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné kožní nemoci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89826"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"521305","display":"Proximal myopathy with focal depletion of mitochondria","definition":"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální myopatie s fokální deplecí mitochondrií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"89833","display":"Palmoplantar keratoderma with tonotubular keratin","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Palmoplantární keratoderma s tonotubulárním keratinem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89833"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2199"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"2199"}]},{"code":"521308","display":"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","definition":"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující frontonazální dysplázii, rozštěp nosu a anomálie horní končetiny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521390","display":"Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome","definition":"A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of <i>KIDINS220</i> associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spastickou paraplegii, mentální retardaci, nystagmus a obezitu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SINO syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom SINO"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521399","display":"NON RARE IN EUROPE: Non rare obesity","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Nevzácná obezita"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521399"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"89838","display":"Autosomal recessive generalized epidermolysis bullosa simplex","definition":"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"KRT14-vázaná epidermolysis bullosa simplex"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive generalized EBS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EBS-AR KRT14"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521406","display":"Dystonia-parkinsonism-hypermanganesemia syndrome","definition":"A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující dystonii, parkinsonismus a hypermanganémii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521411","display":"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect","definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní primárně axonální Charcot-Marie-Toothova nemoc způsobená poruchou metabolismu mědi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive axonal CMT due to copper metabolism defect"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"520820","display":"Progressive external ophthalmoplegia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní zevní oftalmoplegie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520820"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"521123","display":"Radiation-induced plexopathy","definition":"A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plexopatie vyvolaná radiací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521123"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"521127","display":"Osteoradionecrosis of the mandible","definition":"A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, and local suppuration. Complications include pathological fractures, formation of intra- or extra-oral fistulae, and infection. 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Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. 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Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypohidrózu, elektrolytovou nerovnováhu, dysfunkci slzné žlázy, ichtyózu a xerostomii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HELIX syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom HELIX"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93222","display":"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sporadický idiopatický nefrotický syndrom rezistentní na steroidy s difuzní mesangiální proliferací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93222"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"656"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"656"}]},{"code":"93221","display":"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sporadický idiopatický nefrotický syndrom rezistentní na steroidy s minimálními změnami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93221"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"656"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"656"}]},{"code":"528091","display":"Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome","definition":"A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hydrops, laktátovou acidózu, sideroblastickou anémii a multisystémové selhání"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93220","display":"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sporadický idiopatický nefrotický syndrom rezistentní na steroidy s difuzní sklerózou mesangia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93220"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"656"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"656"}]},{"code":"93218","display":"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sporadický idiopatický nefrotický syndrom rezistentní na steroidy s fokálně segmentální hyalinózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Sporadický idiopatický nefrotický syndrom rezistentní na steroidy s fokálně segmentální glomerulosklerózou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93218"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"656"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"656"}]},{"code":"528084","display":"Non-specific syndromic intellectual disability","definition":"A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. 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short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Vermaův-Naumoffův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short rib-polydactyly syndrome type 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, typ 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Verma-Naumoffův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93269","display":"Short rib-polydactyly syndrome, Majewski type","definition":"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Majewského typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short rib-polydactyly syndrome type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93270","display":"Short rib-polydactyly syndrome, Saldino-Noonan type","definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Saldinův-Noonanův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short rib-polydactyly syndrome type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, typ 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Saldino-Noonanův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93267","display":"Cloverleaf skull-multiple congenital anomalies syndrome","definition":"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lebku tvaru jetelového listu a mnohočetné vrozené anomálie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93268","display":"Short rib-polydactyly syndrome, Beemer-Langer type","definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Beemerův-Langerův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Short rib-polydactyly syndrome type 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, typ 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující krátká žebra a polydaktylii, Beemer-Langerův 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the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibulární hemimelie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital longitudinal deficiency of the fibula"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated fibular deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated fibular longitudinal meromelia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený longitudinální deficit 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The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polydaktylie trifalangeálního palce ruky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPD2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Preaxial polydactyly type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPD2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Preaxiální polydaktylie, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93335","display":"Postaxial polydactyly type B","definition":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Postaxiální polydaktylie, typ B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93334","display":"Postaxial polydactyly type A","definition":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Postaxiální polydaktylie, typ A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93333","display":"Pelviscapular dysplasia","definition":"A rare dysostosis characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, short stature and craniofacial abnormalities. Facial dysmorphism is characterized by macrocephaly with frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and low hairline.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pelviskapulární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cousin syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial pelvis-scapular dysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární dysplázie pánve a lopatky"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cousinův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93339","display":"Polydactyly of a biphalangeal thumb and/or hallux","definition":"A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polydaktylie dvoučlánkového palce"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPD1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Preaxial polydactyly type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPD1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Preaxiální polydaktylie, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93337","display":"Polydactyly of an index finger","definition":"Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polydaktylie ukazováku ruky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPD3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Preaxial polydactyly type 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPD3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Preaxiální polydaktylie, typ 3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"527276","display":"Encephalopathy due to mitochondrial and peroxisomal fission defect","definition":"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encefalopatie způsobená poruchou mitochondriálního a peroxizomálního štěpení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93338","display":"Polysyndactyly","definition":"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Polysyndaktylie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPD4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Preaxial polydactyly type 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PPD4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Preaxiální polydaktylie, typ 4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93349","display":"X-linked spondyloepimetaphyseal dysplasia","definition":"A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná spondyloepimetafyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93346","display":"Spondyloepimetaphyseal dysplasia congenita, Strudwick type","definition":"A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth, with shortened limbs and other skeletal abnormalities, including lordosis, kyphoscoliosis, flattened vertebrae, coxa vara, and abnormal epiphyses and metaphyses evident within the first year of life. The presence of metaphyseal dysplasia differentiates this condition from spondyloepiphyseal dysplasia congenita (SEDC). Ocular abnormalities, such as myopia, are frequently associated. Characteristic facial features include hypertelorism, a flat facial profile, and the Pierre Robin sequence. An increased risk of cervical (atlantoaxial) instability due to delayed ossification of the odontoid process has also been reported in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární vrozená dysplázie, Strudwickův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93347","display":"Anauxetic dysplasia","definition":"A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anauxetická dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepimetaphyseal dysplasia, Menger type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepimetaphyseal dysplasia, anauxetic type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spondyloepimetafyzární dysplázie, anauxetický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spondyloepimetafyzární dysplázie, Mengerův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93356","display":"Spondyloepimetaphyseal dysplasia, Missouri type","definition":"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie, typ Missouri"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMD type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMD, Missouri type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepimetaphyseal dysplasia type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SEMD typ 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SEMD, typ Missouri"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spondyloepimetafyzární dysplázie, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93351","display":"Spondyloepimetaphyseal dysplasia, Irapa type","definition":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. There have been no further description in the literature since 1981.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie, typ Irapa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMD, Irapa type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SEMD, typ Irapa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93352","display":"Spondyloepimetaphyseal dysplasia, Shohat type","definition":"Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie, Shohatův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMD, Shohat type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SEMD, Shohatův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93284","display":"Spondyloepiphyseal dysplasia tarda","definition":"A rare primary bone dysplasia characterized by postnatal onset of disproportionate short stature manifesting within the first two decades of life, associated with short trunk and short neck, arm span significantly greater than height, dorsal kyphosis, lumbar hyperlordosis, barrel-shaped chest, and progressive joint and back pain with precocious osteoarthritis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepifyzární dysplázie, pozdní typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93292","display":"Adenoma of pancreas","definition":"A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenom pankreatu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic adenoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický adenom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93293","display":"Okihiro syndrome","definition":"A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Okihirův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Duane-radial ray syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Duanova anomálie s abnormalitami radiálního paprsku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Achondrogeneze, typ 1A"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Achondrogenesis, Houston-Harris type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Achondrogeneze, Houstonův-Harrisův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Achondrogeneze, Houston-Harrisův 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Mild scoliosis is typically present. Radiographically, it is distinct from other types of brachyolmia, showing rounded anterior and posterior vertebral margins and variable intervertebral space widths (narrowed or broadened). Some patients also exhibit precocious ossification of the falx cerebri, metaphyseal irregularities, and small epiphyses of the proximal femora. Additional clinical features may include widely spaced nipples, clinodactyly, hypoplastic nails, pectus excavatum, joint hyperlaxity, subtle facial dysmorphism (such as a flat nose and thick lips), and mild intellectual disability. There have been no further descriptions in the literature since 1989.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachyolmie, Maroteauxův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brachyolmia type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brachyolmie, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93301","display":"Brachyolmia type 1, Hobaek type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachyolmie typ 1, Hobaekův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93301"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"448242"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"448242"}]},{"code":"93303","display":"Brachyolmia type 1, Toledo type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachyolmie typ 1, Toledův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93303"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"448242"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"448242"}]},{"code":"93304","display":"Autosomal dominant brachyolmia","definition":"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní brachyolmie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brachyolmia type 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brachyolmie, typ 3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93307","display":"Multiple epiphyseal dysplasia type 4","definition":"Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mnohočetná epifyzární dysplázie, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive multiple epiphyseal dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EDM4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MED4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Polyepiphyseal dysplasia type 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"rMED"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EDM4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MED4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Polyepifyzární dysplázie, typ 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"rMED"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní mnohočetná epifyzární dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93308","display":"Multiple epiphyseal dysplasia type 1","definition":"Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mnohočetná epifyzární dysplázie, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EDM1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MED1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Polyepiphyseal dysplasia type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EDM1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MED1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Polyepifyzární dysplázie, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93311","display":"Multiple epiphyseal dysplasia type 5","definition":"Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. 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trochanteric area), coxa vara and generalized platyspondyly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondylometafyzární dysplázie, Kozlowskeho typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93315","display":"Spondylometaphyseal dysplasia, 'corner fracture' type","definition":"Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondylometafyzární dysplázie, typ s okrajovými fragmenty metafyzárních zlomenin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondylometaphyseal dysplasia, Sutcliffe type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spondylometafyzární dysplázie, Sutcliffův 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Skeletal anomalies include irregular appearance of the iliac crest and bone, abnormal long bones of the extremities (including shortening, widening and cupping), and increased intervertebral disc space. Visceral anomalies include subendocardial myocarditis, myocardial necrosis, adrenal and pulmonary hemorrhage. Cranial magnetic resonance imaging reveals intracranial abnormalities such as simplified gyral pattern, hypogenesis of the corpus callosum, and cerebellar hypoplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondylometafyzární dysplázie, Sedaghatianův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90692","display":"Rare endocrine growth disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná endokrinní porucha růstu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90692"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"529962","display":"17q24.2 microdeletion syndrome","definition":"A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrodeleční syndrom 17q24.2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(17)(q24)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(17)(q24)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"529864","display":"Secondary erythromelalgia","definition":"A rare neurologic disease characterized by intermittent pain, erythema, swelling, and heat of the extremities which is aggravated by warming and improved by cooling. Attacks can last between minutes and days and tend to be precipitated by heat, exercise, or physical dependence. The disease may be linked to a variety of underlying conditions including hematological, metabolic, connective tissue or neurological disorders, neoplasia, infections, and certain drug side effects, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární erytromelalgie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary erythermalgia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"529852","display":"Combined hepatocellular carcinoma and cholangiocarcinoma","definition":"A rare hepatic tumor characterized by the presence of both hepatocytic and cholangiocytic differentiation within a primary liver carcinoma. 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Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. 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enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující zánětlivé onemocnění střev a recidivující sinopulmonární infekce"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NFAT5 haploinsufficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Haploinsuficience NFAT5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"530033","display":"Dermoid or epidermoid cyst of the central nervous system","definition":"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. 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Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující imunitní dysregulaci, zánětlivé onemocnění střev, artritidu, recidivující infekce a lymfopenii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90695","display":"Non-acquired panhypopituitarism","definition":"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. 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deficiency.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaný angioedém"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AAE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired C1 inhibitor deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired angioneurotic edema"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired bradykinine-induced angioedema"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired non histamine-induced 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interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený Hornerův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital Claude-Bernard-Horner syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený Claudův-Bernardův-Hornerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozený Claude-Bernard-Hornerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91397","display":"Isolated ankyloblepharon filiforme adnatum","definition":"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaný adnátní filiformní ankyloblefaron"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91411","display":"Congenital ptosis","definition":"Congenital ptosis is characterized by superior eyelid drop present at birth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená ptóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91357","display":"Duplication of the esophagus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Duplikace jícnu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"91354","display":"Pituitary deficiency due to empty sella turcica syndrome","definition":"A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypofyzární deficit způsobený syndromem prázdného tureckého sedla"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypopituitarism due to empty sella turcica syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypopituitarismus způsobený syndromem prázdného tureckého sedla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91355","display":"Sheehan syndrome","definition":"Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sheehanův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91364","display":"Non-specific interstitial pneumonia","definition":"A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are non-specific and include dyspnea, cough, and often constitutional symptoms such as fever and fatigue. Pulmonary function test reveals a restrictive pattern. Computed tomography shows predominantly lower lobe subpleural reticular changes, traction bronchiectasis, and ground-glass opacities. The cellular type of the disease is less common but carries a better prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nespecifická intersticiální pneumonie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NSIP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-specific idiopathic interstitial pneumonia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NSIP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nespecifická idiopatická intersticiální pneumonie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91365","display":"OBSOLETE: Secondary ciliary dyskinesia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sekundární ciliární dyskineze"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Acquired ciliary dyskinesia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Získaná ciliární dyskineze"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: SCD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91365"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"244"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"244"}]},{"code":"91358","display":"Congenital esophageal diverticulum","definition":"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený divertikl jícnu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital esophageal pouch"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91359","display":"Chronic pneumonitis of infancy","definition":"Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická pneumonitida kojenců"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CPI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CPI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91496","display":"Snowflake vitreoretinal degeneration","definition":"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vločkovitá vitreoretinální degenerace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91495","display":"Persistent hyperplastic primary vitreous","definition":"A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perzistující hyperplastický primární sklivec"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital retinal detachment"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCRNA disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-syndromic congenital retinal non-attachment"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PFVS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PHPV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Persistent fetal vasculature syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PFVS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PHPV"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Perzistující fetální vaskulatura"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Perzistence primárního sklivce"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91494","display":"Macular coloboma-cleft palate-hallux valgus syndrome","definition":"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující makulární kolobom, rozštěp patra a hallux valgus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91492","display":"Early onset non-syndromic cataract","definition":"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Časná nesyndromová katarakta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91546","display":"Lyme disease","definition":"Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by <i>Borrelia burgdorferi</i>.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymeská nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lyme borreliosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lymeská borelióza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91546"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91500","display":"Tubulointerstitial nephritis and uveitis syndrome","definition":"A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom tubulointersticiální nefritidy a uveitidy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dobrin syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TINU syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní tubulointersticiální nefritida s uveitidou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TINU syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tubulointersticiální nefritida s uveitidou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91498","display":"Familial congenital palsy of trochlear nerve","definition":"A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární vrozená obrna trochleárního nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91481","display":"Ring dermoid of cornea","definition":"Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the <i>PITX2</i> gene have been suggested as a potential cause of the condition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kruhový dermoid rohovky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring dermoid syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom kruhového dermoidu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91416","display":"Isolated congenital alacrima","definition":"Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná vrozená alakrimie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91415","display":"OBSOLETE: Familial capillary hemangioma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Familiární kapilární hemangiom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91415"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"673470"}]},{"code":"91414","display":"Pilomatrixoma","definition":"Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pilomatrixom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epithelioma calcificans of Malherbe"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pilomatricoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Malherbeův kalcifikující epiteliom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91491","display":"Congenital ectropion uveae","definition":"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozené ektropion živnatky/uvey"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91490","display":"Isolated congenital sclerocornea","definition":"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná vrozená sklerokornea"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91489","display":"Isolated congenital megalocornea","definition":"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná vrozená megalokornea"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital anterior megalophthalmia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kongenitální anteriorní megaloftalmie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91483","display":"Rieger anomaly","definition":"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Riegerova anomálie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91127","display":"Adenovirus infection in immunocompromised patients","definition":"A rare viral disease characterized by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired <i>de novo</i> or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, hemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease, among others. Severity varies with age and immune status, and life-threatening courses may occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infekce adenoviry u imunokompromitovaných pacientů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91127"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91128","display":"OBSOLETE: Graft rejection after lung transplantation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Odmítnutí štěpu po transplantaci plic"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91128"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"306644"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"306644"}]},{"code":"91129","display":"Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující anoftalmii, srdeční a plicní anomálie srdce a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91129"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2470"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"2470"}]},{"code":"91130","display":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","definition":"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kardiomyopatii, hypotonii a laktátovou acidózu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91131","display":"DK1-CDG","definition":"DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the <i>de novo</i> biosynthesis of dolichol phosphate. The mutations identified in the <i>DK1</i> gene led to a 96 to 98% reduction in DK activity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"DK1-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type Im"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-Im"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG1M"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbohydrate deficient glycoprotein syndrome type Im"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 1m"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type Im"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dolichol kinase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypotonia and ichthyosis due to dolichol phosphate deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrom, typ Im"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-Im"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG1M"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom karbohydrát deficientního glykoproteinu, typ Im"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace, typ 1m"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozené poruchy glykosylace, typ Im"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit dolichol kinázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypotonie a ichtyóza způsobené deficitem dolichol fosfátu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91132","display":"Ichthyosis-hypotrichosis syndrome","definition":"Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the <i>ST14</i> gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ichtyóza s hypotrichózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypotrichosis-congenital ichthyosis syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IFAH syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IHS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ichthyosis-follicular atrophoderma-hypotrichosis syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hypotrichózu a vrozenou ichtyózu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IFAH syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"IHS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ichtyózu, folikulární atrofodermii a hypotrichózu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující ichtyózu, folikulární atrofodermii, hypotrichózu a hypohidrózu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91133","display":"OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující osteopenii, myopii, ztrátu sluchu, mentální retardaci a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91133"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"314555"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"314555"}]},{"code":"90793","display":"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","definition":"A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená adrenální hyperplázie způsobená deficitem 17-alfa-hydroxylázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CAH due to 17-alpha-hydroxylase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Combined 17-hydroxylase/17,20-lyase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kombinovaný deficit 17-hydroxylázy/17,20-lyázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90794","display":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","definition":"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klasická vrozená adrenální hyperplázie způsobená deficitem 21-hydroxylázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Classic 21-OHD CAH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Klasická 21-OHD CAH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90795","display":"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","definition":"A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená adrenální hyperplázie způsobená deficitem 11-beta-hydroxylázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CAH due to 11-beta-hydroxylase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CYP11B1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit CYP11B1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CAH způsobená deficitem 11-beta-hydroxylázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90796","display":"46,XY difference of sex development due to isolated 17,20-lyase deficiency","definition":"A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"46,XY porucha pohlavního vývoje způsobená izolovaným deficitem 17,20-lyázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"46,XY disorder of sex development due to isolated 17,20-lyase deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90797","display":"Partial androgen insensitivity syndrome","definition":"A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Parciální necitlivost k androgenům"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PAIS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Partial androgen resistance syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PAIS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Parciální androgenní rezistence"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"90970","display":"Primary lipodystrophy","definition":"A heterogenous group of rare endocrine diseases characterized by a generalized or localized loss of adipose tissue (lipoatropy) associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes, and hypertriglyceridemia leading to a risk of acute pancreatitis. The diabetes leads to chronic complications involving the retina, kidney, nerves and cardiovascular system, and to liver steatosis that could result in cirrhosis. In some forms, lipoatrophy is associated with selective hypertrophy of other fat deposits. Clinical signs of insulin resistance (acanthosis nigricans and signs of hyperandrogenism) are often present. It has both genetic and acquired forms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární lipodystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"91024","display":"Autosomal recessive axonal hereditary motor and sensory neuropathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní axonální hereditární motorická a senzorická neuropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AR-CMT2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive axonal Charcot-Marie-Tooth disease type 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AR-CMT2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"91088","display":"Other metabolic disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jiná metabolická porucha"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"91347","display":"TSH-secreting pituitary adenoma","definition":"A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adenom hypofýzy produkující TSH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thyrotroph adenoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pituitary thyrotrophic adenoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TSH-oma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thyroid stimulating hormone-secreting pituitary adenoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tyreotropní adenom hypofýzy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91349","display":"Non-functioning pituitary adenoma","definition":"A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hormonálně neaktivní adenom hypofýzy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NFPA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NFPA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91348","display":"Functioning gonadotropic adenoma","definition":"Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hormonálně aktivní/funkční gonadotropní adenom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Functioning pituitary gonadotropic adenoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Gonadotroph adenoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hormonálně aktivní/funkční gonadotropní adenom hypofýzy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91351","display":"Pituitary dermoid and epidermoid cysts","definition":"Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dermoidní a epidermoidní cysty hypofýzy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91350","display":"Pituitary deficiency due to Rathke cleft cysts","definition":"A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit hormonů hypofýzy způsobený cystami Rathkeho výchlipky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91353","display":"OBSOLETE: Choristoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Choristoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91353"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"156237"}]},{"code":"91352","display":"Germinoma of the central nervous system","definition":"A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Germinom centrálního nervového systému"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Intrakraniální germinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"182127"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"91136","display":"Acquired monoclonal Ig light chain-associated Fanconi syndrome","definition":"A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaný Fanconiho syndrom asociovaný s lehkými řetězci monoklonálních imunoglobulinů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired Fanconi syndrome secondary to monoclonal gammopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Získaný Fanconiho syndrom způsobený monoklonální 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Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. 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Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičný angioedém s deficitem C1Inh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAE with C1 inhibitor deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAE with C1Inh deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary angioneurotic edema with C1 inhibitor deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary angioneurotic edema with C1Inh deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HAE s deficitem C1Inh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HAE s deficitem inhibitoru C1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný angioneurotický edém s deficitem C1Inh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný angioneurotický edém s deficitem inhibitoru C1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528623"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"91144","display":"46,XX difference of sex development induced by maternal-derived androgen","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"46,XX porucha sexuálního vývoje indukovaná maternálními androgeny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"46,XX DSD induced by maternal-derived androgen"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"46,XX disorder of sex development induced by maternal-derived androgen"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"46,XX DSD indukovaná maternálními androgeny"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"528647","display":"Hereditary angioedema with normal C1Inh","definition":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičný angioedém s normální koncentrací C1Inh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAE with normal C1 inhibitor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAE with normal C1Inh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary angioedema with normal C1 inhibitor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary angioneurotic edema with normal C1 inhibitor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary angioneurotic edema with normal C1Inh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HAE s normální koncentrací C1Inh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HAE s normální koncentrací inhibitoru C1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný angioedém s normální koncentrací inhibitoru C1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný angioneurotický edém s normální koncentrací C1Inh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný angioneurotický edém s normální koncentrací inhibitoru C1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528647"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"528663","display":"Acquired angioedema with C1Inh deficiency","definition":"A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. 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Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Névus s rounovitými vlasy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Wooly hair nevus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lokalizovaná forma rounovitých 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epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná epidermolysis bullosa simplex, non-Dowlingův-Mearův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant generalized EBS, intermediate form"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epidermolysis bullosa simplex, Koebner type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epidermolysis bullosa simplex, Köbner 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Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epidermolysis bullosa simplex, typ Ogna"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLEC-related intermediate EBS without extracutaneous involvement"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EBS-O"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79400","display":"Localized epidermolysis bullosa simplex","definition":"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lokalizovaná forma epidermolysis bullosa simplex"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBS-loc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epidermolysis bullosa simplex of palms and soles"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epidermolysis bullosa simplex, Weber-Cockayne type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Localized 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tract.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující junkční epidermolysis bullosa a atrézii pyloru"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carmi syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JEB with pyloric atresia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JEB-PA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Carmiové 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enamel hypoplasia, with extracutaneous involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Generalizovaná junkční epidermolysis bullosa, non-Herlitzův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Generalized atrophic benign epidermolysis bullosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Generalized junctional epidermolysis bullosa, non-Herlitz type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermediate generalized JEB"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Junctional epidermolysis bullosa generalisata 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Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Junkční epidermolysis bullosa inversa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JEB inversa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JEB-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EBJ-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Inverzní 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membranes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Junkční epidermolysis bullosa, Herlitzův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Epidermolysis bullosa letalis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JEB-H"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Junctional epidermolysis bullosa generalisata gravis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Junctional epidermolysis bullosa, Herlitz type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Junctional epidermolysis bullosa, Herlitz-Pearson 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Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. 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Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. 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Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chondrodysplasia punctata, tibiálněmetakarpální typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79347","display":"Chondrodysplasia punctata, Toriello type","definition":"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chondrodysplasia punctata, Toriellův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Toriello-Higgins-Miller syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Toriellův-Higginsův-Millerův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Toriello-Higgins-Millerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79344","display":"OBSOLETE: Chondrodysplasia punctata, Sheffield type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Autozomálně dominantní chondrodysplasia punctata"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Chondrodysplasia punctata, Sheffieldův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79344"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"79345"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"79345"}]},{"code":"79345","display":"Brachytelephalangic chondrodysplasia punctata","definition":"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachytelefalangická chondrodysplasia punctata"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85191","display":"Singleton-Merten dysplasia","definition":"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Singletonova-Mertenova dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Singleton-Merten syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Singletonův-Mertenův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Singleton-Mertenova dysplázie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Singleton-Mertenův 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Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. 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Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondylookulární syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85197","display":"Genochondromatosis type 1","definition":"A rare disorder characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. The clinical course is benign.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Genochondromatóza, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85196","display":"Nodulosis-arthropathy-osteolysis 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Vascular calcification has been reported in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Keutelův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující stenózu arterie pulmonalis, brachytelefalangismus a kalcifikaci chrupavek"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85273","display":"X-linked intellectual disability, Abidi type","definition":"X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, typ Abidiové"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85212","display":"Fetal Gaucher disease","definition":"Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fetální Gaucherova choroba"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Perinatal lethal Gaucher disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Perinatální letální Gaucherova choroba"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"355"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"85274","display":"Ahmad syndrome","definition":"A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndromická X-vázaná mentální retardace 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual developmental disorder, X-linked, syndromic 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MRXS7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked intellectual disability, Ahmad type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MRXS7"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaná mentální retardace, Ahmadův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85275","display":"Microphthalmia-ankyloblepharon-intellectual disability syndrome","definition":"Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. 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It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Armfieldův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Armfield syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Armfieldův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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and behavioral problems.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndromická X-vázaná mentální retardace související s KDM5C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Claes-Jensen syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndromická mentální retardace způsobená mutací JARID1C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, cubitus valgus a dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85281","display":"OBSOLETE: MECP2 duplication syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: X-vázaná mentální retardace, Lubsův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Lubs-Arena syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: X-linked intellectual disability, Lubs type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Syndrom zahrnující X-vázanou mentální retardaci, hypotonii a rekurentní infekce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Lubsův-Arenův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Lubs-Arenův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85281"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1762"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"1762"}]},{"code":"85282","display":"MEHMO syndrome","definition":"A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MEHMO syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaný syndrom zahrnující mentální retardaci, epileptické záchvaty, hypogenitalismus, mikrocefalii a obezitu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85283","display":"X-linked intellectual disability, Miles-Carpenter type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Milesové-Carpenterové typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaná mentální retardace, Miles-Carpenterové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3454"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"3454"}]},{"code":"85284","display":"BRESEK syndrome","definition":"A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"BRESEK syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BRESHECK syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BRESHECK syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85285","display":"X-linked intellectual disability, Schimke type","definition":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Schimkeho typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85286","display":"X-linked intellectual disability, Shashi type","definition":"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Shashiové typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndromic X-linked intellectual disability type 11"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndromická X-vázaná mentální retardace, typ 11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85287","display":"X-linked intellectual disability, Siderius type","definition":"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Sideriusové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85288","display":"X-linked intellectual disability, Stocco Dos Santos type","definition":"X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the <i>KIAA1202</i> gene, localised to the Xp11.2 region.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Stocco Dos Santosové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85289","display":"X-linked intellectual disability, Vitale type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Vitaleové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85289"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"85293"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"85293"}]},{"code":"85293","display":"X-linked intellectual disability, Cabezas type","definition":"An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Cabezasův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cabezas syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cabezasův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85292","display":"X-linked spinocerebellar ataxia type 4","definition":"A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná spinocerebelární ataxie, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAX4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked ataxia-dementia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAX4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaný syndrom zahrnující ataxii a demenci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85291","display":"X-linked intellectual disability, Wittwer type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Wittwerův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Wittwer syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Wittwerův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85291"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"280"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"280"}]},{"code":"85290","display":"X-linked intellectual disability, Wilson type","definition":"X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Wilsonův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85317","display":"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, hypogamaglobulinémii a progresivní neurologickou deterioraci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85297","display":"X-linked spinocerebellar ataxia type 3","definition":"X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná spinocerebelární ataxie, typ 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAX3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked ataxia-deafness syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked ataxia-hearing loss syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAX3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaný syndrom zahrnující ataxii a hluchotu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85295","display":"HSD10 disease, atypical type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"HSD10 nemoc, atypický typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HSD10 deficiency, atypical type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndromic X-linked intellectual disability type 10"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HSD10 deficit, atypický typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndromická X-vázaná mentální retardace, typ 10"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaný syndrom zahrnující mentální retardaci, choreoatetózu a abnormální chování"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"391417"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"85294","display":"X-linked epilepsy-learning disabilities-behavior disorders syndrome","definition":"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující epilepsii, poruchy učení a poruchy chování"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85321","display":"Deafness-intellectual disability syndrome, Martin-Probst type","definition":"A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hluchotu a mentální retardaci, Martinové-Probstův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hearing loss-intellectual disability syndrome, Martin-Probst type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Martin-Probst syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked deafness-intellectual disability syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked hearing loss-intellectual disability syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"X-vázaný syndrom zahrnující hluchotu a mentální retardaci"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Martinové-Probstův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující hluchotu a mentální retardaci, Martin-Probstův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Martin-Probstův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85320","display":"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","definition":"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, makrocefalii a makroorchidismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Johnson syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Johnsonův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85319","display":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","definition":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, epilepsii, progresivní kloubní kontraktury a dysmorfismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85318","display":"OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: X-vázaný syndrom zahrnující mentální retardaci, předčasnou pubertu a obezitu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85318"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"102369"}]},{"code":"85325","display":"X-linked intellectual disability, Stevenson type","definition":"X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Stevensonův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85324","display":"X-linked intellectual disability, Shrimpton type","definition":"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Shrimptonův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MRXS9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MRXS9"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85323","display":"X-linked intellectual disability, Seemanova type","definition":"X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Seemanové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85322","display":"X-linked intellectual disability, Pai type","definition":"A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Paiův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85328","display":"X-linked intellectual disability, Turner type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Turnerův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85328"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"528084"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"528084"}]},{"code":"85329","display":"X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome","definition":"A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, hypotonii, faciální dysmorfismus a agresivní chování"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85326","display":"X-linked intellectual disability, Stoll type","definition":"X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná mentální retardace, Stollův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85327","display":"X-linked intellectual disability-acromegaly-hyperactivity syndrome","definition":"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, akromegalii a hyperaktivitu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85332","display":"X-linked intellectual disability-retinitis pigmentosa syndrome","definition":"X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci a retinitis pigmentosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aldred syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Retinitis pigmentosa and intellectual disability due to monosomy 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Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom zahrnující mentální retardaci, ataxii a apraxii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85408","display":"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis","definition":"A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Juvenilní revmatoidní faktor-negativní polyartritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile polyarthritis without rheumatoid factor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile rheumatoid factor-negative polyarthritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rheumatoid factor-negative polyarticular JIA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Polyartritida bez revmatoidního faktoru"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85443","display":"AL amyloidosis","definition":"A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"AL amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Light-chain amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Amyloidóza s lehkými řetězci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85442","display":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome","definition":"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující malý vzrůst, vady hypofýzy a mozečku a malé sella turcica"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85446","display":"Wild type ABeta2M amyloidosis","definition":"A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (&#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Divoký typ ABeta2M amyloidózy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ABeta2Mwt amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dialysis-related amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dialysis-related arthropathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Wild type ABeta2-microglobulinic amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ABeta2Mwt amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Amyloidóza asociovaná s dialýzou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Artropatie asociovaná s dialýzou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Divoký typ ABeta2-mikroglobulární amyloidózy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85445","display":"AA amyloidosis","definition":"A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"AA amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Inflammatory amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Reactive amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Reaktivní amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Zánětlivá amyloidóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85436","display":"Psoriasis-related juvenile idiopathic arthritis","definition":"A rare pediatric inflammatory rheumatic disease characterized by the presence of arthritis accompanied by either psoriasis or at least two of the following supporting features; presence of nail pitting, onycholysis, dactylitis, or a family history of psoriasis in a first degree relative. Patients are younger than 16 years of age and the disease lasts longer than 6 weeks.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Juvenilní psoriatická artritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile psoriatic arthritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Psoriasis-related JIA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85435","display":"Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis","definition":"A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Juvenilní revmatoidní faktor-pozitivní polyartritida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile idiopathic rheumatoid factor-positive polyarthritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile polyarthritis with rheumatoid factor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rheumatoid factor-positive polyarticular JIA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Polyartritida s revmatoidním faktorem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85438","display":"Enthesitis-related juvenile idiopathic arthritis","definition":"A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Artritida s entezitidou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Enthesitis-related JIA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile ERA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ERA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Juvenilní spondyloartropatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85458","display":"Hereditary cerebral amyloid angiopathy","definition":"A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární mozkové krvácení s amyloidózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HCHWA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary cerebral hemorrhage with amyloidosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HCHWA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85453","display":"X-linked reticulate pigmentary disorder","definition":"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. 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It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the <i>WAS</i> gene, encoding the WASP protein.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaná těžká vrozená neutropenie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86309","display":"DPAGT1-CDG","definition":"DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene <i>DPAGT1 </i> (11q23.3).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"DPAGT1-CDG"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type Ij"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-Ij"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG1J"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbohydrate deficient glycoprotein syndrome type Ij"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 1j"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type Ij"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG syndrom, typ Ij"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-Ij"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG1J"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Carbohydrate deficient glycoprotein syndrom type Ij"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace, typ 1j"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená porucha glykosylace, typ Ij"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit dolichyl-fosfát N-acetylgalaktosaminfosfotransferázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Glykoproteinový syndrom deficitu sacharidů typu Ij"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85448","display":"AGel amyloidosis","definition":"A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. 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Renal, ocular and cardiac involvement also frequently occurs. 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Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. 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The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lokalizovaný lichen myxedematosus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Papular mucinosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Papulární mucinóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86795"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"86797","display":"Atypical lichen myxedematosus","definition":"An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). 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Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lissencefalii typu 3 a sekvenci familiární fetální akineze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86822","display":"Lissencephaly type 3-metacarpal bone dysplasia syndrome","definition":"A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lissencefalii typu 3 a dysplázii metakarpálních kostí"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86823","display":"Lissencephaly with cerebellar hypoplasia","definition":"Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lissencefalie s hypoplázií mozečku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LCH"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LCH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"86816","display":"Congenital analbuminemia","definition":"Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená analbuminémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"512017","display":"Chronic lymphoproliferative disorder of natural killer cells","definition":"A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická proliferativní porucha granulárních lymfocytů z NK buněčné linie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CLPD-NK"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CNKL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic NK lymphocytosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic NK-cell lymphocytosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic lymphoproliferative disorder of NK-cells"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NK-cell lineage granular lymphocyte proliferative disorder"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CNKL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CLPD-NK"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronická lymfocytóza NK buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronická lymfoproliferativní porucha NK buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Proliferativní porucha granulárních lymfocytů z NK buněčné linie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86817","display":"Hemolytic anemia due to adenylate kinase deficiency","definition":"Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemolytická anémie způsobená deficitem adenylátkinázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86818","display":"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome","definition":"A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including <i>COL4A5</i>, <i>FACL4</i> and <i>AMMECR1</i>.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Alportův syndrom s mentální retardací, hypoplázií střední části obličeje a eliptocytózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AMME syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ATS-MR"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AMME complex"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AMME komplex"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AMME syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ATS-MR"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86819","display":"Atrichia with papular lesions","definition":"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atrichie s papulárními lézemi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Papular atrichia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Papulární atrichie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"512034","display":"Large granular lymphocyte leukemia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leukémie velkých granulárních lymfocytů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"86843","display":"Acute panmyelosis with myelofibrosis","definition":"A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní panmyelóza s myelofibrózou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myelodysplasia with myelofibrosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myelofibrosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myelodysplázie s myelofibrózou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myelofibróza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myeloskleróza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86841","display":"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality","definition":"A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myelodysplastický syndrom vázaný s izolovanou abnormalitou del(5q)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"5q- syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"5q- syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86839","display":"Myelodysplastic neoplasm with increased blasts","definition":"Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Refrakterní anémie s excesem blastů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDS with excess blasts"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDS-IB"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RAEB"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Refractory anemia with excess blasts"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86836","display":"Refractory cytopenia with multilineage dysplasia","definition":"Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Refrakterní cytopenie s multilineární dysplázií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"512103","display":"Autosomal recessive epidermolytic ichthyosis","definition":"A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní epidermolytická ichtyóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AREI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AREI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86834","display":"Juvenile myelomonocytic leukemia","definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Juvenilní myelomonocytární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"JMML"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile chronic myelomonocytic leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"JMML"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Juvenilní chronická myelomonocytární leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86830","display":"Chronic myeloproliferative disease, unclassifiable","definition":"A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neklasifikované chronické myeloproliferativní onemocnění"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMPD-U"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Undifferentiated myeloproliferative disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMPD-U"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nediferencované myeloproliferativní onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86829","display":"Chronic neutrophilic leukemia","definition":"A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická neutrofilní leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86855","display":"Plasmacytoma","definition":"Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plazmocytom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Solitary plasmacytoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Solitární plazmocytom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"512260","display":"Congenital cerebellar ataxia due to RNU12 mutation","definition":"A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená ataxie mozečku způsobená mutací RNU12"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86854","display":"Splenic marginal zone lymphoma","definition":"Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Splenický lymfom z marginální zóny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMZL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMZL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86852","display":"B-cell prolymphocytic leukemia","definition":"A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"B-prolymfocytární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"B-PLL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"B-PLL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86851","display":"Acute leukemia of ambiguous lineage","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní leukémie nejednoznačné linie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute leukemia of indeterminate lineage"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hybrid acute leukemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mixed lineage acute leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hybridní akutní leukémie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní leukémie se smíšenou linií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní leukémie se smíšeným fenotypem"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní leukémie neurčitého původu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"86850","display":"Myeloid sarcoma","definition":"Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myeloidní sarkom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chloroma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Extramedullary myeloid tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Granulocytic sarcoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chlorom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Extramedulární myeloidní nádor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Granulocystický sarkom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86849","display":"Acute basophilic leukemia","definition":"A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní bazofilní leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86846","display":"Therapy related acute myeloid leukemia and myelodysplastic syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie a myelodysplastický syndrom způsobené terapií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary AML"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Secondary acute myeloid leukemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Therapy-related AML and myelodysplastic syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární AML"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sekundární akutní myeloidní leukémie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML a myelodysplastický syndrom způsobené terapií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"86845","display":"Acute myeloid leukaemia with myelodysplasia-related features","definition":"A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie s dysplázií více linií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with multilineage dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with myelodysplasia-related features"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myeloid leukemia with multilineage dysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML s dysplázií více krevních linií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86872","display":"T-cell large granular lymphocyte leukemia","definition":"T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"T-velkobuněčná granulární lymfocytární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Proliferation of large granular lymphocytes"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-LGL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-cell LGL leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"T-LGL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Proliferace velkých granulárních lymfocytů"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"T-buněčná LGL leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86873","display":"Aggressive NK-cell leukemia","definition":"An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Agresivní NK-buněčná leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ANKCL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aggressive NK-cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NK-cell LGL leukemia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NK-cell large granular lymphocyte leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ANKCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Agresivní NK-buněčný lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NK-buněčná LGL leukémie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NK-velkobuněčná granulární lymfocytární leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86870","display":"Blastic plasmacytoid dendritic cell neoplasm","definition":"A rare and highly aggressive myeloid malignancy characterized by predominant cutaneous involvement with concomitant or subsequent bone marrow, lymph node and visceral involvement, as well as central nervous system (CNS) disease. It derives from the precursors of plasmacytoid dendritic cells (pDC).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CD4+/CD56+ hematodermická neoplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BPDCN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BPDCN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Blastický NK-buněčný lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Blastická neoplázie z plazmocytoidních dendritických buněk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lymfoblastoidní varianta NK-buněčného lymfomu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monomorfní NK-buněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86871","display":"T-cell prolymphocytic leukemia","definition":"A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"T-prolymfocytární leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-PLL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-cell chronic lymphocytic leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"T-PLL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronická T-lymfocytární leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86867","display":"Nodal marginal zone B-cell lymphoma","definition":"Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uzlinový B-buněčný lymfom z marginální zóny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NMZL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NMZL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86869","display":"Lymphomatoid granulomatosis","definition":"Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymfomatoidní granulomatóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LYG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LYG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86861","display":"Non-amyloid monoclonal immunoglobulin deposition disease","definition":"A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Non-amyloidní onemocnění z depozice monoklonálních imunoglobulinů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-amyloid MIDD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Randall disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Non-amyloidní MIDD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Randallova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86864","display":"Heavy chain disease","definition":"Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nemoc těžkých řetězců"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HCD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HCD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86886","display":"Angioimmunoblastic T-cell lymphoma","definition":"A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"T-angioimunoblastický lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immunoblastic lymphadenopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lymphogranulomatosis X"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"T-cell lymphoma, AILD type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AILT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AILT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Imunoblastická lymfadenopatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Lymfogranulomatóza X"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"T-buněčný lymfom, AILD typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86893","display":"Nodular lymphocyte predominant Hodgkin lymphoma","definition":"Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nodulární Hodgkinův lymfom s převahou lymfocytů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NLPHL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NLPHL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86884","display":"Subcutaneous panniculitis-like T-cell lymphoma","definition":"A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Subkutánní T-buněčný lymfom podobný panikulitidě"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPTCL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Subcutaneous panniculitic T-cell lymphoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPTCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Subkutánní panikulitický T-buněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86885","display":"Primary cutaneous peripheral T-cell lymphoma not otherwise specified","definition":"An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární kožní nespecifikovaný periferní T-buněčný lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary cutaneous peripheral T-cell lymphoma NOS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary cutaneous unspecified peripheral T-cell lymphoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86880","display":"Enteropathy-associated T-cell lymphoma","definition":"A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly involved. Patients typically present with abdominal pain, malabsorption or diarrhea, anorexia, weight loss, fatigue, nausea, vomiting, and sometimes intestinal perforation or hemorrhage. Prognosis is generally poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"T-buněčný lymfom asociovaný s enteropatií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EATL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ETTL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Enteropathy-associated T-cell lymphoma type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Enteropathy-type T-cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intestinal T-cell lymphoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"EATL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ETTL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"T-buněčný lymfom typu enteropatie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Intestinální T-buněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86882","display":"Hepatosplenic T-cell lymphoma","definition":"A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hepatosplenický T-lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86875","display":"Adult T-cell leukemia/lymphoma","definition":"A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor &#945;&#946;. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Adultní T-buněčný lymfom/leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ATLL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ATLL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"86879","display":"Extranodal nasal NK/T cell lymphoma","definition":"Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Extranodální nazální NK/T-buněčný lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Angiocentric T-cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lethal midline granuloma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NK/T-cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NKTCL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nasal T/natural killer-cell lymphoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Angiocentrický T-lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NKTCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Letální granulom střední čáry"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NK/T-buněčný lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nazální T/natural killer-buněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"79502","display":"Punctate palmoplantar keratoderma type 2","definition":"Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). 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Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type&nbsp;1 never achieved independent sitting.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální spinální svalová atrofie, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile spinal muscular atrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile-onset spinal muscular atrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type I"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA-I"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Werdnig-Hoffmann disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infantilní spinální svalová atrofie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Werdnigova-Hoffmanova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Werdnig-Hoffmanova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"70"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"83315","display":"Murine typhus","definition":"A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. 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Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). 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By definition, individuals with proximal spinal muscular atrophy (SMA) type&nbsp;3 achieve independent ambulation before symptom onset, but ambulation may be lost over the course of the disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální spinální svalová atrofie, typ 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile spinal muscular atrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kugelberg-Welander disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type III"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA-III"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Juvenilní spinální svalová atrofie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kugelbergova-Welanderové nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ 3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ III"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA-III"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kugelberg-Welanderové nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"70"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"83420","display":"Proximal spinal muscular atrophy type 4","definition":"A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem. Proximal spinal muscular atrophy (SMA) type&nbsp;4 is a rare subtype which manifests after 18&nbsp;years of age with mild proximal muscle weakness.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální spinální svalová atrofie, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA-IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spinal muscular atrophy, adult form"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ IV"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA-IV"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Spinální svalová atrofie, adultní forma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"70"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"83418","display":"Proximal spinal muscular atrophy type 2","definition":"A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting between 6 and 18&nbsp;months of age with progressive, predominantly proximal muscle weakness. Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type&nbsp;2 learned to sit, but never achieved independent ambulation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální spinální svalová atrofie, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermediate spinal muscular atrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA type II"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA-II"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMA2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronická infantilní spinální svalová atrofie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronická spinální svalová atrofie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA typ II"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA-II"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMA2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Středně závažná spinální svalová atrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"70"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"83313","display":"Boutonneuse fever","definition":"A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium <i>Rickettsia conorii</i>, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. 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Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Epidemický tyfus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Skvrnitý tyfus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83314"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83311","display":"Rocky Mountain spotted fever","definition":"A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria <i>Rickettsia rickettsii</i> characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. 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Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rickettsiové neštovice"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83312"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83469","display":"Desmoplastic small round cell tumor","definition":"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Desmoplastický kulatobuněčný tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DSRCT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DSRCT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83468","display":"Solitary bone cyst","definition":"A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Solitární kostní cysta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile bone cyst"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Jednokomorová kostní cysta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83467","display":"Morvan syndrome","definition":"Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Morvanův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Morvan fibrillary chorea"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující limbickou encefalitidu, neuromyotonii, hyperhidrózu a polyneuropatii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Morvanova fibrilární chorea"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83465","display":"Narcolepsy type 2","definition":"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Narkolepsie bez kataplexie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Narcolepsy without cataplexy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83476","display":"West-Nile encephalitis","definition":"An acute arboviral infection caused by a virus of the <i>Flaviviridae</i> family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Západonilská encefalitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"West-Nile fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Západonilská horečka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83473","display":"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","definition":"A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující megalencefalii, polymikrogyrii, postaxiální polydaktylii a hydrocefalus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MPPH syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MPPH syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83472","display":"CAMOS syndrome","definition":"A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CAMOS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAR5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující cerebelární ataxii, mentální retardaci, optickou atrofii a kožní abnormality"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAR5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83471","display":"T-cell immunodeficiency with thymic aplasia","definition":"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aplázie thymu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated aplasia/hypoplasia of the thymus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital athymia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital thymic aplasia/hypoplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated thymic defect due to thymic aplasia/hypoplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nezelof syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Nezelofův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83452","display":"Complex regional pain syndrome","definition":"A rare neurologic disease characterized by persistent pain that is disproportionate to the inciting event. The pain is regional, usually affecting a limb with a distal predominance, and may occur spontaneously or be stimulus-induced. It is associated with sensory disturbances, vasomotor abnormalities (including changes in skin color and temperature), sudomotor abnormalities, edema, and motor or trophic changes. Symptoms often develop following trauma, fractures, immobilization, surgery, or nerve injury, and their severity and clinical presentation can vary considerably among patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Komplexní regionální bolestivý syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sudeck's atrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Causalgia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Reflex sympathetic dystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Algodystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Algoneurodystrophy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"KRBS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sudeckův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83452"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83451","display":"Florid cemento-osseous dysplasia","definition":"Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Floridní cementokostní dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Florid osseous dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Focal cemento-osseous dysplasia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Floridní kostní dysplázie"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fokální cementokostní dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83450","display":"Regional odontodysplasia","definition":"A rare orodental disease characterized by localized developmental anomaly of the dental tissues, with enamel and dentin hypomineralization affecting one (odontodysplasia) or several (regional odontodysplasia; ROD) teeth (deciduous and permanent, with teeth of the maxilla more frequently involved).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Regionální odontodysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ghost teeth"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ghost teeth"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83449","display":"NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Syndrom nepřiměřené sekrece antidiuretického hormonu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: SIADH"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83449"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83463","display":"Microtia","definition":"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrocie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83461","display":"Congenital primary aphakia","definition":"A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená primární afakie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83454","display":"Glomuvenous malformation","definition":"A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Glomuvenózní malformace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Glomangiomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary multiple glomangiomas"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multiple glomus tumors"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VMGLOM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Venous malformations with glomus cells"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Glomangiomatóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"VMGLOM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární mnohočetné glomangiomy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mnohočetné glomus tumory"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Venózní malformace s glomus buňkami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83453","display":"Vulvovaginal gingival syndrome","definition":"A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vulvovaginogingivální syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"514352","display":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","definition":"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozený brachyezofagus, nitrohrudní uložení žaludku a obratlové anomálie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Serpentine-like syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Plazu podobný syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83618","display":"Severe dilated cardiomyopathy due to lamin A/C mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Těžká dilatační kardiomyopatie způsobená mutací laminu A/C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe dilated cardiomyopathy with or without myopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžká dilatační kardiomyopatie s nebo bez myopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83618"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"300751"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"300751"}]},{"code":"83619","display":"Macrostomia-preauricular tags-external ophthalmoplegia syndrome","definition":"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující makrostomii, preaurikulární výběžky a zevní oftalmoplegii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83620","display":"Enteric anendocrinosis","definition":"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený malabsorpční průjem způsobený nedostatkem enteroendokrinních buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Enterální anendokrinóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83628","display":"LUMBAR syndrome","definition":"A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PELVIS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PELVIS syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SACRAL syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující perineální hemangiom, malformaci zevního genitálu, lipomyelomeningokélu, vezikorenální abnormality a atrézii anu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Malformační sekvence urorektálního septa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83601","display":"Steroid-responsive encephalopathy associated with autoimmune thyroiditis","definition":"Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encefalopatie asociovaná s autoimunitní thyroiditidou odpovídající na steroidy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hashimoto encephalitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SREAT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hashimotova encefalitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SREAT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83616","display":"Rubella panencephalitis","definition":"A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Zarděnková panencefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83617","display":"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome","definition":"A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující agamaglobulinémii, mikrocefalii, kraniosynostózu a těžkou dermatitidu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83594","display":"Eastern equine encephalitis","definition":"An acute arboviral infection caused by an <i>alphavirus</i> of the <i>Togaviridae</i> family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Východní koňská encefalitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Eastern equine encephalomyelitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Východní koňská encefalomyelitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83595","display":"Colorado tick fever","definition":"An acute arboviral infection caused by a <i>Coltivirus</i> transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Koloradská klíšťová horečka"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"American mountain fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Colorado tick encephalitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Colorado tick-borne disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mountain fever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mountain tick fever"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Horečka amerických hor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Koloradská klíšťová encefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83597","display":"Acute disseminated encephalomyelitis","definition":"A demyelinating disorder of the central nervous system.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní diseminovaná encefalomyelitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADEM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute demyelinating encephalomyelitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute disseminated encephalitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADEM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní diseminovaná encefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83600","display":"Encephalitis lethargica","definition":"A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encephalitis lethargica"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Von Economo encephalitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Von Economova encefalitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ekonomova encefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83482","display":"Mycoplasma encephalitis","definition":"Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by <i>Mycoplasma pneumoniae</i>. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mykoplazmová encefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83483","display":"La Crosse encephalitis","definition":"An acute arboviral infection caused by the <i>La Crosse bunyavirus</i> transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"La Crossova encefalitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Californian encephalitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kalifornská encefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83484","display":"St. Louis encephalitis","definition":"An acute arboviral infection caused by a virus of the <i>Flaviviridae</i> family transmitted by an infected mosquito, and characterized by the onset of flu-like symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encefalitida St. Louis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Saint Louis encephalitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Saint Louis encefalitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Saintlouiská encefalitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83593","display":"Western equine encephalitis","definition":"An acute arboviral infection caused by an <i>alphavirus</i> of the <i>Togaviridae</i> family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flu-like symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. 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Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Seniorův-Boichisův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Boichis disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nephronophthisis-hepatic fibrosis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Boichisova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující nefronoftízu a jaterní fibrózu"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Senior-Boichisův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"84090","display":"Fibronectin glomerulopathy","definition":"A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibronektinová glomerulopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GFND"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Glomerulopathy with fibronectin deposits"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"GFND"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Glomerulopatie s depozity fibronektinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"84087","display":"Collagen type III glomerulopathy","definition":"A rare non-immune-mediated glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. 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Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 78"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG78"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG78"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83639","display":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","definition":"A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hyperkoagulační syndrom způsobený deficitem glykosylfosfatidylinositolu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation due to PIGM deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PIGM-CDG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PIGM-CDG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"513456","display":"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, záchvaty, abnormální chůzi a faciální dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Skraban-Deardorff syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Skrabanové-Deardorffův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Skraban-Deardorffův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83629","display":"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome","definition":"A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující leukoencefalopatii a metafyzární chondrodysplázii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"H-SMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypomyelination-spondyloepimetaphyseal dysplasia syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leukoencephalopathy-SEMD syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Leukoencephalopathy-metaphyseal chondrodysplasia syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"83648","display":"OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: X-vázaný recesivní syndrom zahrnující mentální retardaci, makrocefalii a ciliární dysfunkci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83648"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"300496"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"300496"}]},{"code":"83642","display":"Microcytic anemia with liver iron overload","definition":"A rare constitutional anemia with liver iron overload characterized by severe hypochromic microcytic anemia present at birth and hepatic iron overload due to a defect in iron transport to erythroid cells. Patients are present with erythroid hyperplasia with signs of abnormal erythroid maturation, consistently high serum iron levels and serum transferrin receptors.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrocytární anémie s přetížením jater železem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85163","display":"Hypomyelination-congenital cataract syndrome","definition":"A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující hypomyelinizaci a vrozenou kataraktu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85164","display":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","definition":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kamptodaktylii, velký vzrůst, skoliózu a ztrátu sluchu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CATSHL syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Camptodactyly-tall stature-scoliosis-deafness syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CATSHL syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85146","display":"Neurogenic scapuloperoneal syndrome, Kaeser type","definition":"A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. 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Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Senzorická a motorická neuropatie počínající v obličeji"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FOSMN syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FOSMN syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85138","display":"Addison disease","definition":"A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Addisonova choroba"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autoimmune Addison disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autoimmune adrenalitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Classic Addison disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary Addison disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary adrenal insufficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autoimunitní Addisonova choroba"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autoimunitní adrenalitida"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Klasická Addisonova choroba"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární Addisonova choroba"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85138"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85142","display":"NON RARE IN EUROPE: Aldosterone-producing adenoma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Adenom produkující aldosteron"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Aldosterone-secreting adenoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Aldosteronoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Conn adenoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Primary aldosteronism due to Conn adenoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85142"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85128","display":"Bothnia retinal dystrophy","definition":"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Botnická retinální dystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Västerbotten dystrophy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Västerbottenova dystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85136","display":"Cystic leukoencephalopathy without megalencephaly","definition":"Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cystická leukoencefalopatie bez megalencefalie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CLWM"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CLWM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85110","display":"Familial encephalopathy with neuroserpin inclusion bodies","definition":"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární encefalopatie s inkluzními tělísky neuroserpinu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FENIB"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FENIB"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85112","display":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","definition":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující palmoplantární keratoderma, XX reverzi pohlaví a predispozici ke spinocelulárnímu karcinomu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující palmoplantární hyperkeratózu, XX reverzi pohlaví a predispozici ke spinocelulárnímu karcinomu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"84271","display":"Sporadic idiopathic steroid-resistant nephrotic syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sporadický idiopatický steroid-rezistentní nefrotický syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Sporadic idiopathic nephrosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sporadická idiopatická nefróza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84271"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"656"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"656"}]},{"code":"85102","display":"Perineurioma","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perineuriomy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85102"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"84132","display":"Desmin-related myopathy with Mallory body-like inclusions","definition":"A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Desmin-vázaná myopatie s inkluzemi podobnými Malloryho tělískům"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Early-onset desmin-related myopathy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Desmin-vázaná myopatie s časným 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patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniometadiafyzární dysplázie, typ s wormiánskými kůstkami"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85182","display":"Diaphyseal medullary stenosis-bone malignancy syndrome","definition":"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující diafyzární medulární stenózu a kostní malignity"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bone dysplasia-medullary fibrosarcoma syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hardcastle syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující kostní dysplázii a medulární fibrosarkom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující diafyzární medulární stenózu a maligní fibrózní histiocytom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hardcastlův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85179","display":"Infantile osteopetrosis with neuroaxonal dysplasia","definition":"This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infantilní osteopetróza s neuroaxonální dysplázií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85175","display":"Astley-Kendall dysplasia","definition":"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Astleyho-Kendallův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Astley-Kendallův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85174","display":"Pseudodiastrophic dysplasia","definition":"Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pseudodiastrofická dysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85173","display":"IMAGe syndrome","definition":"A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"IMAGe syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující intrauterinní růstovou retardaci, metafyzární dysplázii, vrozenou adrenální hypoplázii a anomálie genitálií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85172","display":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type","definition":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses <i>etc.</i>).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrocefalická osteodysplastická dysplázie, Saulův-Wilsonův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mikrocefalická osteodysplastická dysplázie, Saul-Wilsonův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85170","display":"Mesomelic dysplasia, Savarirayan type","definition":"Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mezomelická dysplázie, Savarirayanův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mesomelic dysplasia with absent fibulas and triangular tibias"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Triangular tibia-fibular aplasia syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující trojúhelníkovité tibie a fibulární aplázii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mezomelická dysplázie s chybějícími fibulami a trojúhelníkovitými tibiemi"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85169","display":"Familial digital arthropathy-brachydactyly","definition":"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární digitální artropatie a brachydaktylie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85168","display":"Craniofacial conodysplasia","definition":"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kraniofaciální konodysplázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85167","display":"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","definition":"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spondylometafyzární dysplázii a dystrofii tyčinek a čípků"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SMD-CRD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SMD-CRD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85166","display":"Platyspondylic dysplasia, Torrance type","definition":"Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the <i>COL2A1</i> gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Platyspondylická dysplázie, Torranceho typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLSD-T"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Platyspondylic dysplasia, Torrance-Luton type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Platyspondylic lethal skeletal dysplasia, Torrance type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PLSD-T"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Platyspondylická letální skeletální dysplázie, Torranceho typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Platyspondylická dysplázie, Torranceho-Lutonův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Platyspondylická dysplázie, Torrance-Lutonův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"85165","display":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","definition":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the <i>FGFR3</i> gene; 4p16.3).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující achondroplázii, opoždění vývoje a acanthosis nigricans"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SADDAN"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SADDAN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98118","display":"OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Non-pore-loop kanalopatie způsobená Clc7 anomálií Cl- transportéru"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98118"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"98119","display":"OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney 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Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. 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associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom rigidní páteře"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rigid spine congenital muscular dystrophy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená svalová dystrofie se spinální 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Feeding difficulty, orthopedic and respiratory complications, that may be life-threatening, often develop in the course of the disease. Intellectual disability, structural brain abnormalities, ocular abnormalities (such as optic atrophy, retinal changes), seizures and cardiomyopathy are also reported to be associated with different disorders belonging to this group. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozené svalové dystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MDC"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"97261","display":"GRFoma","definition":"GRFoma is a type of pancreatic endocrine tumor that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. 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The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mega cisterna magna"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97249","display":"Pontocerebellar hypoplasia type 3","definition":"A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. 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PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PPom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic polypeptidoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pankreatický polypeptidom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97275","display":"Encephalitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encefalitidy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97275"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"97285","display":"Thyroid lymphoma","definition":"A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymfom štítné žlázy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97283","display":"Somatostatinoma","definition":"Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and 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and achlorhydia or hypochhlorhydia (known as WDHA syndrome).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"VIPom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diarrheogenic islet cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pancreatic cholera"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VIP-secreting tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Verner-Morrison syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"WDHA 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syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující vodnatý průjem, hypokalémii a achlorhydrii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Verner-Morrisonův 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Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. 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Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bronchiální endokrinní nádor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bronchial NET"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Karcinoid bronchů"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neuroendokrinní nádor bronchů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97293","display":"Rare benign ovarian tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné benigní nádory vaječníků"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97293"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"97295","display":"Furlong syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom Furlongové"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Marfanoid habitus-craniosynostosis syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující marfanoidní habitus a kraniosynostózu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97295"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"60030"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"60030"}]},{"code":"97292","display":"Cardiogenic shock","definition":"A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kardiogenní šok"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or 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growth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Osgoodova-Schlatterova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aseptic necrosis of the tibial tubercle"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Osteochondrosis of the tibial tubercle"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Aseptická nekróza tuberositas tibiae"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Osteochondróza tuberositas tibiae"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Osgood-Schlatterova 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The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bohringův-Opitzův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BOS syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bohring syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"C-like syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Oberklaid-Danks syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Opitz trigonocephaly-like syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BOS syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"C-like syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bohringův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Oberklaidův-Danksův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Opitzův syndrom podobný trigonocefalii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Bohring-Opitzův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Oberklaid-Danksův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97330","display":"Thoracic outlet syndrome","definition":"Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom horní hrudní apertury"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TOS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Thoracic outlet compression syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"TOS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kompresivní syndrom horní hrudní apertury"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97330"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97338","display":"Melanoma of soft tissue","definition":"A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Melanom měkkých tkání"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Clear cell sarcoma of the tendons and aponeuroses"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Světlobuněčný sarkom šlach a aponeuróz"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97339","display":"Dural sinus malformation with arteriovenous shunt","definition":"A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malformace durálních sinů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cranial dural arteriovenous fistula"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dural sinus malformation with arteriovenous fistulae"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kraniální durální arteriovenózní píštěl"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kraniální durální arteriovenózní malformace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97336","display":"Panner disease","definition":"A rare osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pannerova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aseptic necrosis of the capital humerus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Osteochondrosis of the capital humerus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Aseptická nekróza hlavice humeru"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Osteochondróza hlavice humeru"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97337","display":"Sinding-Larsen-Johansson disease","definition":"A rare osteochrondrosis characterized by chronic traction injury of the immature osteotendinous junction where the patellar tendon inserts into the inferior pole of the patella. It is typically seen in active adolescents. Patients present with point tenderness at the inferior pole of the patella associated with focal swelling and restriction of knee joint range of movement. Radiographic features include thickening of the proximal patellar tendon (potentially followed by dystrophic calcification and/or ossification) and fragmentation of the inferior pole of the patella.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sinding-Larsenova-Johanssonova nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Aseptic necrosis of patella"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Osteochondrosis of patella"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Aseptická nekróza apexu pately"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Osteochondróza čéšky"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Sinding-Larsen-Johanssonova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97341","display":"Persistent placoid maculopathy","definition":"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perzistentní plakoidní makulopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97340","display":"Hunter-McAlpine syndrome","definition":"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hunter-McAlpinové syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hunter-McAlpinové kraniosynostóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97342","display":"OBSOLETE: Argyrophilic grain disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Argyrofilní onemocnění zrn"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Braak disease"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97342"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"98534"}]},{"code":"97346","display":"ADan amyloidosis","definition":"A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ADan amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial dementia, Danish type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dánská familiární demence"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"439254"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"97345","display":"ABri amyloidosis","definition":"A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ABri amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial dementia, British type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Britská familiární demence"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"439254"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"97349","display":"Postencephalitic parkinsonism","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Postencefalitický parkinsonismus"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97349"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97352","display":"Pellagra","definition":"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pelagra"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97352"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97354","display":"NON RARE IN EUROPE: Wernicke encephalopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Wernickeho encefalopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Dementia due to thiamine deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97354"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97353","display":"Dementia pugilistica","definition":"A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dementia pugilistica"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Boxer's dementia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic traumatic encephalopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Punch-drunk syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Boxerská demence"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chronická traumatická 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genitalia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Robinowův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acral dysostosis with facial and genital abnormalities"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fetal face syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mesomelic dwarfism-small genitalia syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Robinow dwarfism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Robinow-Silverman-Smith 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early falls and cognitive decline with prominent features of frontal lobe dysfunction.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Guadeloupský parkinsonský komplex"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Atypical parkinsonism in the 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Patients are usually asymptomatic however some patients may present with hypertension and urinary tract infections. Risk of renal failure in childhood is minimal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Renální hypoplázie, jednostranná"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"93101"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"97362","display":"Renal hypoplasia, bilateral","definition":"A form of renal hypoplasia characterized by bilateral abnormally small kidneys with reduced number of nephrons. Patients are usually asymptomatic but may have hypertension, some excretory functional limitations, as well as eventual chronic renal failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Renální hypoplázie, oboustranná"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"93101"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of 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typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular. The tumor is surrounded by a thick fibrous capsule and does not contain solid areas or necrosis. Patients may be asymptomatic or present with a palpable abdominal mass and/or abdominal or flank pain. Age distribution is bimodal, the typical age of onset being either below five or between 40 and 70 years of age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mnohočetné renální cysty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular cyst of the kidney"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Multilocular renal cyst"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Mnohočetné cysty ledvin"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"97367","display":"Renal tubular dysgenesis due to twin-twin transfusion","definition":"A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Renální tubulární dysgeneze způsobená syndromem feto-fetální transfuze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3033"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"97368","display":"Drug-related renal tubular dysgenesis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poléková renální tubulární dysgeneze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3033"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"97369","display":"Renal tubular dysgenesis of genetic origin","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Geneticky podmíněná renální tubulární dysgeneze"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3033"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"97548","display":"Right isomerism","definition":"A form of heterotaxy characterized by both atrial appendages having the morphology of a right atrial appendage, often associated with two morphologically right lungs and/or bronchi, and asplenia. Associated cardiovascular defects are frequent, including dextrocardia or mesocardia, common atrioventricular junction (atrioventricular septal defect), ventricular hypoplasia in half of cases, anomalous ventriculo-arterial connections (malposition or transposition of the great arteries), anomalous systemic and pulmonary venous connections (total anomalous pulmonary venous return), absent coronary sinus, and frequent subpulmonary stenosis. Cardiac arrhythmias are frequently observed. Typical extracardiac anomalies are midline liver, intestinal malrotation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ivemarkův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ivemark syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RAI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Right atrial 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biopsie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97552"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"69061"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"moved-to","valueCode":"69061"}]},{"code":"97555","display":"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sporadický idiopatický nefrotický syndrom rezistentní na steroidy s kolabující glomerulopatií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97555"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"656"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of 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glomerulonephritis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary membranous nephropathy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96183","display":"Maternal uniparental disomy of chromosome 9 syndrome","definition":"Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 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7","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Silverův-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(7)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(7)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Silver-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 7"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"813"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"96181","display":"Maternal uniparental disomy of chromosome 6 syndrome","definition":"Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(6)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(6)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96180","display":"Maternal uniparental disomy of chromosome 4 syndrome","definition":"Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(4)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(4)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96179","display":"Maternal uniparental disomy of chromosome 2 syndrome","definition":"Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(2)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(2)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96178","display":"Ring chromosome 16 syndrome","definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 16"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 16"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 16"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kruhový chromozom 16"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96177","display":"Ring chromosome 15 syndrome","definition":"A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 15"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 15"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 15"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kruhový chromozom 15"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96176","display":"Ring chromosome 13 syndrome","definition":"A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 13"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 13"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 13"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kruhový chromozom 13"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96191","display":"Paternal uniparental disomy of chromosome 6 syndrome","definition":"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paternální uniparentální dizomie chromozomu 6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(6)pat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(6)pat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96190","display":"Paternal uniparental disomy of chromosome 5 syndrome","definition":"Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paternální uniparentální dizomie chromozomu 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(5)pat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(5)pat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96188","display":"Maternal uniparental disomy of chromosome 22 syndrome","definition":"Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 22"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(22)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(22)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96187","display":"Maternal uniparental disomy of chromosome 21 syndrome","definition":"A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 21"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(21)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(21)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96186","display":"Maternal uniparental disomy of chromosome 20 syndrome","definition":"Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 20"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Maternal UPD(20)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(20)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maternální UPD20"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(20)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96185","display":"Maternal uniparental disomy of chromosome 16 syndrome","definition":"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 16"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(16)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(16)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96184","display":"Temple syndrome due to maternal uniparental disomy of chromosome 14","definition":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maternální uniparentální dizomie chromozomu 14"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(14)mat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(14)mat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"254516"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"96194","display":"Paternal uniparental disomy of chromosome 20 syndrome","definition":"Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paternální uniparentální dizomie chromozomu 20"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Paternal UPD(20)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(20)pat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Paternální 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expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paternální uniparentální dizomie chromozomu 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broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). 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Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Iatrogenní nebo traumatický deficit hormonů hypofýzy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95618","display":"Pituitary hormone deficiency secondary to storage disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární deficit hormonů hypofýzy z důvodu střádavého onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95618"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"95617","display":"Pituitary hormone deficiency secondary to a granulomatous disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární deficit hormonů hypofýzy z důvodu granulomatózního onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95617"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"95615","display":"OBSOLETE: Pituitary deficiency secondary to an anevrysm","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Deficit hypofýzy sekundární k aneuryzmatu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95615"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"95611"}]},{"code":"95614","display":"OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Deficit hypofýzy sekundární při meningeálním krvácení"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95614"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"95505"}]},{"code":"95613","display":"Pituitary apoplexy","definition":"A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. 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The atrial arrangement is usually normal, whereas the ventricles may be inverted. Various congenital heart anomalies have also been associated, such as congenitally corrected transposition of the great arteries.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mezokardie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Midline heart"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Srdce ve střední čáře"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95448","display":"Congenital aortic valve atresia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atrézie aortální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3093"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"95433","display":"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome","definition":"A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující autozomálně recesivní cerebelární ataxii, slepotu a hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spinocerebellar ataxia type 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCABD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAR3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAR3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95434","display":"Autosomal recessive cerebellar ataxia-movement disorder syndrome","definition":"A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující autozomálně recesivní cerebelární ataxii a sakadické pohyby očí"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCAR4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCASI"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCAR4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCASI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95457","display":"Tricuspid valve agenesis","definition":"A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. 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Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ageneze trikuspidální chlopně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital unguarded tricuspid orifice"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological 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Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená trikuspidální stenóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95461","display":"Straddling or overriding tricuspid valve","definition":"Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vyklenutí nebo potlačení trikuspidální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95474","display":"Double-orifice mitral valve","definition":"A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dvojité ústí mitrální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"95465"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"95483","display":"Univentricular cardiopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Srdeční vady se společnou komorou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"95464","display":"Congenital mitral valve insufficiency and/or stenosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená nedostatečnost a/nebo stenóza mitrální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"95465","display":"Cleft mitral valve","definition":"A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rozštěp mitrální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95157","display":"Acute hepatic porphyria","definition":"A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní jaterní porfyrie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"95232","display":"Lissencephaly due to LIS1 mutation","definition":"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lissencefalie způsobená mutací LIS1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PAFAH1B1-related lissencephaly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PAFAH1B1-vázaná lissencefalie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95161","display":"OBSOLETE: Chronic hepatic porphyria","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Chronická jaterní porfyrie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"659694"}]},{"code":"95159","display":"Hepatoerythropoietic porphyria","definition":"A rare form of hepatic porphyria characterized by bullous photodermatosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hepatoerytropoetická porfyrie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HEP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HEP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95428","display":"COG8-CDG","definition":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"CDG syndrom, typ IIh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG syndrome type IIh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG-IIh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDG2H"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Carbohydrate deficient glycoprotein syndrome type IIh"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type 2h"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital disorder of glycosylation type IIh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"COG8-CDG"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG-IIh"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CDG2H"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95427","display":"Secondary short bowel syndrome","definition":"Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární syndrom krátkého střeva"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95426","display":"OBSOLETE: Chronic pain requiring intraspinal analgesia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Chronická bolest vyžadující intraspinální analgezii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95426"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21429","display":"Particular clinical situation in a disease or syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"98006"}]},{"code":"95409","display":"Acute adrenal insufficiency","definition":"A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní adrenální insuficience"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute adrenal failure"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute adrenocortical insufficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Addisonian crisis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adrenal crisis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adrenocortical crisis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní selhání nadledvin"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní adrenokortikální insuficience"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Addisonská krize"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adrenální krize"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adrenokortikální krize"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95409"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95432","display":"Primary progressive aphasia","definition":"Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. 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The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in the chromosome regions, one localised to chromosome 1 and the other to chromosome 14.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující těžkou mentální retardaci, epilepsii, anální anomálie a hypoplázie distálních falangů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"94065","display":"15q24 microdeletion syndrome","definition":"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrodeleční syndrom 15q24"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(15)(q24)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Monosomy 15q24"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(15)(q24)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Monozomie 15q24"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"500163"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"94068","display":"Spondyloepiphyseal dysplasia congenita","definition":"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená spondyloepifyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital spondyloepiphyseal dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEDC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spranger-Wiedemann disease"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"94075","display":"Severe immune-mediated enteropathy","definition":"Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoimunitní enteropatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autoimmune enteropathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Immune-mediated protracted diarrhea of infancy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Těžká enteropatie na podkladě imunitní reakce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Protrahovaný průjem kojenců na podkladě imunitní reakce"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94075"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"94083","display":"Partington syndrome","definition":"Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (<i>ARX</i>) gene (Xp22.13). 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These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. 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progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cytofagická histiocytární panikulitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CHP"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Winkelmann cytophagic panniculitis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CHP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Winkelmannova cytofagická 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resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pseudohypoparatyreóza, typ 1B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96175","display":"Ring chromosome 11 syndrome","definition":"A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RC11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 11"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"r(11) syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kruhový chromozom 11"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96173","display":"Ring chromosome 9 syndrome","definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ring chromozom 9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring 9"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ring chromosome 9"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kruhový chromozom 9"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96172","display":"Ring chromosome 3 syndrome","definition":"Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). 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It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální monozomie 19p13.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal deletion 19p13.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal monosomy 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characterized by a highly variable phenotype that typically manifests with mild to moderate intellectual disability (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 7q11.23"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(7)(q11.23)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 7q11.23"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(7)(q11.23)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 7q11.23"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96123","display":"Monosomy 22 syndrome","definition":"A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Monozomie 22"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Del(22)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Deletion 22"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Del(22)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Delece 22"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96112","display":"Non-distal duplication 9q syndrome","definition":"Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Non-distální trizomie 9q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-distal trisomy 9q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Non-telomeric trisomy 9q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Non-distální duplikace 9q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Non-telomerická trizomie 9q"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96107","display":"Distal duplication 20q syndrome","definition":"Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 20q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 20q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 20q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 20qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 20q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 20q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 20qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96106","display":"Distal duplication 16q syndrome","definition":"Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 16q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 16q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 16q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 16qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 16q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 16q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 16qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96105","display":"Distal duplication 13q syndrome","definition":"Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 13q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 13q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 13q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 13qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 13q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 13q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 13qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96109","display":"Distal duplication 22q syndrome","definition":"Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 22q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 22q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 22q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 22qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 22q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 22q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 22qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96098","display":"Distal duplication 6q syndrome","definition":"Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 6q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 6q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 6q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 6qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 6q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 6q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 6qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96097","display":"Distal duplication 5q syndrome","definition":"Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 5q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 5q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 5q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 5qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 5q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 5q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 5qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96096","display":"Distal duplication 4q syndrome","definition":"Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 4q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 4q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 4q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 4qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 4q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 4q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 4qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96103","display":"Distal duplication 11q syndrome","definition":"Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 11q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 11q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 11qter"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 11q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 11q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 11q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 11qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96102","display":"Distal duplication 10q syndrome","definition":"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 10q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 10q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 10q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 10qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 10q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 10q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 10qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96101","display":"Distal duplication 9q syndrome","definition":"Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 9q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 9q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 9q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 9qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 9q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 9q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 9qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96100","display":"Distal duplication 8q syndrome","definition":"Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 8q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 8q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 8q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 8qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 8q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 8q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 8qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96094","display":"Distal duplication 2q syndrome","definition":"Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 2q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 2q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 2q"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 2qter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 2q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 2q"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 2qter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96095","display":"3q26 microduplication syndrome","definition":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 3q26"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(3)(q26)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(3q) syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 3q26"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Cornelia de Lange-like syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(3)(q26)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 3q26"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96092","display":"8p inverted duplication/deletion syndrome","definition":"A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom invertované duplikace/delece 8p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Invdupdel(8p)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Inverted 8p duplication/deletion syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Invdupdel(8p)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96072","display":"4p16.3 microduplication syndrome","definition":"4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 4p16.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal duplication 4p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 4p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 4p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 4pter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 4p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální trizomie 4p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 4p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 4pter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96074","display":"Distal duplication 7p syndrome","definition":"Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 7p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 7p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 7p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 7pter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 7p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 7p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 7pter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96076","display":"Beckwith-Wiedemann syndrome due to 11p15 microduplication","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Beckwithův-Wiedemannův syndrom způsobený mikroduplikací 11p15"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Beckwith-Wiedemannův syndrom způsobený mikroduplikací 11p15"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"116"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"96078","display":"16p13.3 microduplication syndrome","definition":"16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikroduplikační syndrom 16p13.3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal duplication 16p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 16p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dup(16)(p13.3)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 16p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 16pter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 16p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální trizomie 16p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dup(16)(p13.3)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 16p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 16pter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96069","display":"Distal duplication 1p36 syndrome","definition":"Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 1p36"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 1p36"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 1p36"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 1pter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 1p36"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 1p36"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 1pter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96068","display":"Mosaic trisomy 22 syndrome","definition":"Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková trizomie 22"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic trisomy chromosome 22"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 22 mosaicism"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96071","display":"Distal duplication 3p syndrome","definition":"Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 3p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 3p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 3p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 3pter"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 3p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 3p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 3pter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96070","display":"Distal duplication 2p syndrome","definition":"Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Distální trizomie 2p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 2pter"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Distal trisomy 2p"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Telomeric duplication 2p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Distální duplikace 2p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Telomerická duplikace 2p"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Trizomie 2pter"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96059","display":"Mosaic trisomy 4 syndrome","definition":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková trizomie 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic trisomy chromosome 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 4 mosaicism"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96060","display":"Mosaic trisomy 5 syndrome","definition":"Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková trizomie 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic trisomy chromosome 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 5 mosaicism"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96061","display":"Mosaic trisomy 8 syndrome","definition":"A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková trizomie 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic trisomy chromosome 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 8 mosaicism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Warkany syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Warkanyho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"96063","display":"Mosaic trisomy 10 syndrome","definition":"Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková trizomie 10"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic trisomy chromosome 10"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Trisomy 10 mosaicism"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"95717","display":"Idiopathic congenital hypothyroidism","definition":"A rare primary congenital hypothyroidsm without throid developmental anomaly characterized by hypothroidsm present at birth without a known cause. The thyroid gland is normal in shape, size and location. 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The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nemoc z depozice lehkých a těžkých řetězců"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LHCDD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LHCDD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"86861"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"597939","display":"Euthyroid dysprealbuminemic hyperthyroxinemia","definition":"A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. 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Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikrocefalii, těžkou mentální retardaci a vícečetné vrozené vady související s SETD2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93551","display":"OBSOLETE: Secondary glomerular disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sekundární glomerulární onemocnění"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93551"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"93548"}]},{"code":"93550","display":"OBSOLETE: Basement membrane disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Onemocnění bazální membrány"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93550"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"544590"}]},{"code":"597746","display":"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome","definition":"A rare developmental defect during embryogenesis characterized by the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující blefarofimózu a mentální retardaci/genitopatelární překryvný syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"597749","display":"KAT6B-related multiple congenital anomalies syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom mnohočetných vrozených vad souvisejících s KAT6B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KAT6B-related disorder"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"93552","display":"Pediatric systemic lupus erythematosus","definition":"A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Systémový lupus erythematodes dětského věku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SLE, pediatric onset"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SLE, nástup v dětském věku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"597874","display":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome","definition":"A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vývojové opoždění související s MTHFS, mikrocefalii, nízký vzrůst a epilepsii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93562","display":"AFib amyloidosis","definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"AFib amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial amyloid nephropathy due to fibrinogen A alpha-chain variant"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fibrinogen A alpha-chain amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární amyloidová nefropatie způsobená variantou fibrinogen A alfa-řetězce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Fibrinogen A alfa-řetězec amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná amyloidová nefropatie způsobená variantou fibrinogen A alfa-řetězce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná renální amyloidóza způsobená variantou fibrinogen A alfa-řetězce"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"85450"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"598216","display":"Upper tract urothelial carcinoma","definition":"A rare urinary tract tumor characterized by a malignant neoplasm arising from urothelial cells of the pyelocaliceal cavities and ureter. The tumor may be multifocal and bilateral in some cases and is more common in males than in females. Cigarette smoking and occupational exposure are major risk factors. Patients most commonly present with visible or non-visible hematuria and/or flank pain due to obstruction of the flow of urine by tumor tissue, or (less often) to local tumor growth. Systemic symptoms such as anorexia, weight loss, malaise, fatigue, fever, night sweats, or cough can be associated with advanced stages.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uroteliální karcinom horních cest močových"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transitional cell carcinoma of the pelvis and ureter"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Transitional cell carcinoma of the upper urinary tract"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UTUC"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598216"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93564","display":"OBSOLETE: Pediatric polyarteritis nodosa","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Pediatrická polyarteritis nodosa"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: PAN, pediatric onset"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93564"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"767"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"767"}]},{"code":"598603","display":"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome","definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující obličejový dysmorfismus, hypertrichózu, epilepsii, mentální retardaci/opoždění vývoje a přerůstání dásní"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FHEIG syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"598363","display":"Multisystem inflammatory syndrome in children and adults","definition":"A rare systemic disease characterized by a life-threatening hyperinflammatory state several weeks after infection with SARS-CoV-2, predominantly occurring in children. The primary infection is typically mild or asymptomatic, and patients are generally previously healthy individuals. Typical presenting signs and symptoms are persistent fever, gastrointestinal symptoms, mucocutaneous inflammation, lymphopenia, and high levels of circulating inflammatory markers. Some patients develop severe disease with cardiac involvement, hypotension, and shock. Presentation is similar in adults, although the severity of cardiac dysfunction, incidence of thrombosis, and mortality may be higher.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Multisystémový zánětlivý syndrom u dětí a dospělých"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MIS-C/A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598363"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93558","display":"Light chain deposition disease","definition":"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported. The condition frequently occurs in association with multiple myeloma or in patients with M protein and marrow plasma cells at monoclonal gammopathy of undetermined significance levels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nemoc z depozit lehkých řetězců"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LCDD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LCDD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"86861"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"93559","display":"C3 deposition glomerulonephritis without proliferation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Glomerulonefritida s C3 depozity bez proliferace"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93559"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"54370"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"329931"}]},{"code":"598164","display":"FOXG1 syndrome due to intragenic alteration","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom FOXG1 způsobený intragenovou změnou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"561854"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"93560","display":"AApoAI amyloidosis","definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"AApoAI amyloidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Apolipoprotein A-I amyloidosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial amyloid nephropathy due to apolipoprotein A-I variant"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Familial renal amyloidosis due to apolipoprotein A-I variant"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary amyloid nephropathy due to apolipoprotein A-I variant"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary renal amyloidosis due to apolipoprotein A-I variant"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Apolipoprotein A-I amyloidóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární amyloidová nefropatie způsobená variantou apolipoproteinu A-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Familiární renální amyloidóza způsobená variantou apolipoproteinu A-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná amyloidová nefropatie způsobená variantou apolipoproteinu A-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičná renální amyloidóza způsobená variantou apolipoproteinu A-I"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"85450"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"93561","display":"ALys amyloidosis","definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. 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Clinical examination is normal and the course of the disease is benign.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Genochondromatóza, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93400","display":"Congenital sialidosis type 2","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená sialidóza, typ 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"87876"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"93403","display":"Syndactyly type 2","definition":"A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndaktylie, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Synpolydactyly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Synpolydaktylie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599373","display":"STXBP1-related developmental and epileptic encephalopathy","definition":"A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Encefalopatie související s STXBP1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"STXBP1-related encephalopathy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93402","display":"Syndactyly type 1","definition":"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndaktylie, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599376","display":"Hypomyelination of early myelinating structures","definition":"A rare genetic neurological disorder characterized by hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypomyelinizace časných myelinizovaných struktur"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HEMS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93405","display":"Syndactyly type 4","definition":"A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndaktylie, typ 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Polysyndactyly, Haas type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Polysyndaktylie, Haasův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599418","display":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičný angioedém s normálním C1Inh nesouvisející s variantou F12 nebo PLG"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"528647"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"93404","display":"Syndactyly type 3","definition":"A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndaktylie, typ 3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SD3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndactyly of fingers 4 and 5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SD3"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndaktylie 4. a 5. prstu ruky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599480","display":"Acquired hemophilia A","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaná hemofilie A"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AHA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired F8 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired factor VIII deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599485","display":"Acquired hemophilia B","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaná hemofilie B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AHB"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired F9 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acquired factor IX deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93406","display":"Syndactyly type 5","definition":"A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndaktylie, typ 5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Postaxial syndactyly with metacarpal synostosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SD5"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Postaxiální syndaktylie s metakarpální synostózou"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SD5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599490","display":"Acquired factor V deficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaný deficit faktoru V"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599495","display":"Acquired factor VII deficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Získaný deficit faktoru VII"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599495"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93409","display":"Brachydactyly-syndactyly, Zhao type","definition":"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie a syndaktylie, Zhaové typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"599501","display":"Acquired factor X 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Severity of bleeding is variable and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein&nbsp;C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor&nbsp;V (<i>FV</i>) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas beeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon&nbsp;13 is known as Atlanta bleeding disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Krvácivá porucha související s krátkými izoformami faktoru V"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FV short isoforms-related bleeding 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Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vývojové opoždění související s CHD3, opoždění řeči, mentální retardaci, abnormality zraku a obličejový dysmorfismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Snijders Blok-Campeau syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93367","display":"OBSOLETE: CINCA syndrome without NLRP3 mutations","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom CINCA bez mutací NLRP3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93367"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1451"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"1451"}]},{"code":"93372","display":"Familial hypocalciuric hypercalcemia type 1","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární hypokalciurická hyperkalcémie, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FHH type 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"FHH typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"405"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"93382","display":"Brachydactyly type A6","definition":"A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ A6"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acromesomelic dysplasia, Osebold-Remondini type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Osebold-Remondini syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Oseboldův-Remondiniho syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Osebold-Remondiniho syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93383","display":"Brachydactyly type B","definition":"A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93387","display":"Brachydactyly type E","definition":"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ E"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93388","display":"Brachydactyly type A1","definition":"A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ A1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brachydactyly, Farabee type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brachydaktylie, Farabeeův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93384","display":"Brachydactyly type C","definition":"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93385","display":"NON RARE IN EUROPE: Brachydactyly type D","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Brachydaktylie, typ D"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93385"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93393","display":"NON RARE IN EUROPE: Brachydactyly type A3","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Brachydaktylie, typ A3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Brachydactyly-clinodactyly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NON RARE IN EUROPE: Brachymesophalangy V"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93393"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93389","display":"Brachydactyly type A5","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ A5"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93389"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"93383"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"93383"}]},{"code":"93396","display":"Brachydactyly type A2","definition":"A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ A2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brachydactyly, Mohr-Wriedt type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brachydaktylie, Mohrův-Wriedtův typ"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brachydaktylie, Mohr-Wriedtův typ"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93397","display":"Brachydactyly type A7","definition":"A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie, typ A7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Brachydactyly, Smorgasbord type"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Brachydaktylie, typ smorgasbord"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93394","display":"Brachydactyly type A4","definition":"A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. 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Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná imunodeficience způsobená haploinsuficiencí RELA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RAID"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"93608","display":"Autosomal dominant distal renal tubular acidosis","definition":"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. 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Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. 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Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. 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Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. 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It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Stenóza nebo atrofie koronárního ostia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COSA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital coronary arterial orifice stenosis or atresia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital stenosis or atresia of a coronary ostium"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99088","display":"OBSOLETE: Intramural coronary arterial course","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Intramurální průběh koronární arterie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99088"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"541478"}]},{"code":"99089","display":"Abnormal number of coronary ostia","definition":"A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Abnormální počet koronárních ostií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99090","display":"Malposition of a coronary ostium","definition":"A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malpozice koronárního ostia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99083","display":"Pulmonary artery hypoplasia","definition":"A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypoplázie plicní arterie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PAH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Unilateral Pulmonary Artery Hypoplasia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99084","display":"Peripheral pulmonary stenosis","definition":"Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Stenóza větve plicnice"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Branch pulmonary artery stenosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pulmonary branch stenosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99085","display":"OBSOLETE: Coronary artery intramyocardial course","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Intramyokardiální průběh koronární arterie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99085"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"541478"}]},{"code":"99086","display":"OBSOLETE: Aortopulmonary coronary arterial course","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Aortopulmonární průběh koronární arterie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99086"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"541478"}]},{"code":"99079","display":"Cervical aortic arch","definition":"A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cervikální aortální oblouk"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom aortálního oblouku"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99081","display":"Right aortic arch","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pravostranný aortální oblouk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99082","display":"Dysphagia lusoria","definition":"A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysphagia lusoria"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99076","display":"Persistent fifth aortic arch","definition":"A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perzistující pátý aortální oblouk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99075","display":"Encircling double aortic arch","definition":"Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dvojitý aortální oblouk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99078","display":"Neuhauser anomaly","definition":"Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neuhauserova anomálie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99077","display":"Kommerell diverticulum","definition":"Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kommerellův divertikl"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99072","display":"Congenital patent ductus arteriosus aneurysm","definition":"A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozené aneuryzma ductus arteriosus pantens"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99071","display":"Aorto-left ventricular tunnel","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aorto-levokomorový tunel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3400"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99068","display":"Complete atrioventricular septal defect-tetralogy of Fallot","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom kompletního AV kanálu s Fallotovou tetralogií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CAVC-tetralogy of Fallot"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete AVSD-tetralogy of Fallot"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete atrioventricular canal defect-tetralogy of Fallot"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CAVC typ C"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující CAVC a Fallotovu tetralogii"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kompletní atrioventrikulární kanál, typ C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1329"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99067","display":"Complete atrioventricular septal defect with ventricular hypoplasia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom kompletního AV kanálu s hypoplázií komory"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CAVC with ventricular hypoplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete AVSD with ventricular hypoplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete atrioventricular canal defect with ventricular hypoplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Complete atrioventricular septal defect with ventricular imbalance"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Unbalanced complete atrioventricular canal"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CAVC typ B"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující CAVC a hypoplázii komory"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kompletní atrioventrikulární kanál, typ B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1329"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99070","display":"Aorto-right ventricular tunnel","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aorto-pravokomorový tunel"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3400"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99069","display":"OBSOLETE: Univentricular heart with single atrio-ventricular valve","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Srdce se společnou komorou a jedinou AV chlopní"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99069"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1464"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"1464"}]},{"code":"99064","display":"Straddling and/or overriding mitral valve","definition":"A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Široká a/nebo nasedající mitrální chlopeň"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"95465"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99063","display":"Shone complex","definition":"Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Shoneův komplex"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation 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srdce"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"NEAKTUÁLNÍ: Kompletní atrioventrikulární kanál, typ A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99066"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1329"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"1329"}]},{"code":"99125","display":"Congenital total pulmonary venous return anomaly","definition":"A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený úplný anomální návrat plicních žil"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99126","display":"Congenital pulmonary vein atresia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená atrézie plicní žíly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CPVA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital PVA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99123","display":"Inferior vena cava interruption without azygos continuation","definition":"A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Přerušení dolní duté žíly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IVC interruption"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Inferior caval vein interruption"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Interrupce dolní duté žíly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Přerušení VCI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99124","display":"Congenital partial pulmonary venous return anomaly","definition":"A form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený částečný anomální návrat plicních žil"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99121","display":"Azygos continuation of the inferior vena cava","definition":"A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dolní dutá žíla pokračující venou azygos"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Azygos continuation of the IVC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Azygos continuation of the inferior caval vein"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Inferior vena cava interruption with azygos continuation"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Azygos pokračování VCI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99122","display":"Congenital stenosis of the inferior vena cava","definition":"A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená stenóza dolní duté žíly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital stenosis of the IVC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital stenosis of the inferior caval vein"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená stenóza VCI"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99119","display":"Right inferior vena cava connecting to left-sided atrium","definition":"A rare vascular anomaly characterized by a congenital anomalous connection between the inferior vena cava and the left atrium. Clinical manifestations depend on the presence and nature of additional cardiac defects and include cyanosis, dyspnea, failure to thrive, clubbing of fingers and toes, and potentially heart failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pravá dolní dutá žíla ústící do levé síně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Right IVC connecting to left-sided atrium"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Right inferior caval vein connecting to left-sided atrium"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pravá VCI napojující se na levostrannou síň"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pravá dolní dutá žíla napojujicí se na levostrannou síň"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99120","display":"Persistent eustachian valve","definition":"A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perzistující chlopeň dolní duté žíly"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99117","display":"Coronary sinus stenosis","definition":"A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Stenóza koronárního sinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99118","display":"Coronary sinus atresia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atrézie koronárního sinu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99113","display":"Subaortic course of innominate vein","definition":"Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Subaortální průběh vena innominata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Subaortic course of brachiocephalic vein"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Subaortální průběh vena brachiocefalica"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99114","display":"Agenesis of the superior vena cava","definition":"A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ageneze horní duté žíly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Absence of the SVC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Absence of the superior caval vein"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Absence of the superior vena cava"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Agenesis of the SVC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Agenesis of the superior caval vein"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ageneze SVC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chybění VCS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chybění horní kavální žíly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chybění vena cava superior"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99111","display":"Persistent left superior vena cava connecting to the roof of left-sided atrium","definition":"A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Levá horní dutá žíla pokračující do levostranné síně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Persistent left SVC connecting to left-sided atrium"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Persistent left SVC connecting to the roof of left-sided atrium"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Persistent left superior vena cava connecting to left-sided atrium"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Levá SVC pokračující do levostranné síně"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Levá vena cava superior pokračující do levostranné síně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99112","display":"Absence of innominate vein","definition":"A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chybění vena innominata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Absence of brachiocephalic vein"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Chybění vena brachiocefalica"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99110","display":"Right superior vena cava connecting to left-sided atrium","definition":"A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pravá horní dutá žíla ústící do levé síně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Right SVC connecting to left-sided atrium"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Right superior caval vein connecting to left-sided atrium"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pravá VCS ústící do levé síně"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pravá horní dutá žíla napojující se na levostrannou síň"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99109","display":"Persistent left superior vena cava connecting through coronary sinus to left-sided atrium","definition":"A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolism may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perzistující levá vena cava superior napojující se na levostrannou síň"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Persistent left SVC connecting through coronary sinus to left-sided atrium"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Perzistující levá SVC napojující se na levostrannou síň"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Perzistující levá horní dutá žíla napojující se na levostrannou síň"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99108","display":"NON RARE IN EUROPE: Patent foramen ovale","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NON RARE IN EUROPE: Foramen ovale patens"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99108"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-non-rare-disease-in-europe","display":"Inactive: Non rare disease in Europe"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99107","display":"Atrial septal aneurysm","definition":"A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Aneuryzma síňového septa"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99106","display":"Atrial septal defect, ostium primum 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Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lymfedém a zadní atrézii choan"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99130","display":"Congenital partial agenesis of pericardium","definition":"Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. 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It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. 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On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pleuroperikardiální cysta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99134","display":"OBSOLETE: Intermediate stomatocytosis syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Syndrom intermediární stomatocytózy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99134"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"98365"}]},{"code":"99329","display":"48,XYYY syndrome","definition":"A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"48,XYYY syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99330","display":"49,XYYYY syndrome","definition":"A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"49,XYYYY syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99228","display":"Mosaic monosomy X syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková forma monozomie X"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"881"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99324","display":"Paternal uniparental disomy of chromosome 13 syndrome","definition":"Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paternální uniparentální dizomie choromozomu 13"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UPD(13)pat"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"UPD(13)pat"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99361","display":"Isolated familial medullary thyroid carcinoma","definition":"A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. 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Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Metafyzární chondromatóza s D-2-hydroxyglutarovou acidurií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MC-HGA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99688","display":"Dermotrichic syndrome","definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dermotrichický syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active-historical-entity","display":"Active: Historical Entity"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"592574","display":"Menke-Hennekam syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Menkeho-Hennekamův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"592564","display":"GNAO1-related developmental delay-seizures-movement disorder spectrum","definition":"A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spektrum související s GNAO1 zahrnující vývojové opoždění, záchvaty a poruchu pohybu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GNAO1-related neurodevelopmental disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GNAO1-related spectrum"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"592570","display":"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s TRAF7, zahrnující srdeční vadu, anomálie prstů, faciální dysmorfii a opoždění motoriky a řeči"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99694","display":"Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující synechii alveolů, ankyloblefaron a ektodermální dysplázii"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99694"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"1071"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"1071"}]},{"code":"99672","display":"Fried's tooth and nail syndrome","definition":"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Friedův syndrom zubů a nehtů"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99715","display":"MASS syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující postižení mitrální chlopně, aorty, kostry a kůže"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mitral valve-aorta-skeleton-skin syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MASS syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99715"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"558"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"moved-to","valueCode":"284963"}]},{"code":"99718","display":"Leber plus disease","definition":"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leberova choroba plus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LHON plus disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LHON+"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"590539","display":"Isolated melanotic schwannoma","definition":"A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaný melanocytární schwannom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated melanocytic schwannoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99722","display":"OBSOLETE: Sporadic achalasia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Sporadická achalázie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99722"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"930"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"930"}]},{"code":"99723","display":"OBSOLETE: Familial esophageal achalasia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Familiární achalázie jícnu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99723"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"930"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}},{"code":"referred-to","valueCode":"930"}]},{"code":"99725","display":"Pituitary gigantism","definition":"A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pituitární gigantismus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hypophyseal gigantism"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Infantile and juvenile forms of acromegaly"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hypofyzární gigantismus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Infantilní a juvenilní formy 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It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. 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Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Obezita, hyperfagie a těžké vývojové opoždění s časným nástupem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBHD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"589830","display":"Adult-onset Steinert myotonic dystrophy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Steinertova myotonická dystrofie s nástupem v dospělosti"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adult-onset Steinert disease"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adult-onset myotonic dystrophy type 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"273"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"589905","display":"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující problémy s chováním související s PHIP, mentální retardaci, obezitu a dysmorfické rysy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chung-Jansen syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DIDOD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99706","display":"OBSOLETE: Progeria-associated arthropathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Artropatie s progerií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99706"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"300766"}]},{"code":"589856","display":"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující choanální atrézii, atelii, hypotyreózu, opožděnou pubertu a nízký vzrůst"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99710","display":"Punctate acrokeratoderma freckle-like pigmentation","definition":"A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. 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Seizures are typically characterized by sensory visual symptoms with elementary visual phenomena, such as flashing lights, visual distortions, eye deviation, or temporary blindness. Secondary generalized seizures may also occur. 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or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární dystonie, typ DYT13"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYT13"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary dystonia with mixed phenotype"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary torsion dystonia with predominant craniocervical or upper limb onset"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYT13"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární dystonie se 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lymphoma","definition":"A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární velkobuněčný B-lymfom mediastina"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Large cell lymphoma of the 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the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní nediferencovaná leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myeloid leukemia, minimal differentiation, FAB M0"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98836","display":"Bilineal acute leukemia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní bilineární leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98836"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"530995"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"530995"}]},{"code":"98833","display":"Acute myeloblastic leukemia without maturation","definition":"A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloblastická leukémie bez vyzrávání"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML M1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myeloblastic leukemia M1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML M1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myeloblastická leukémie M1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98834","display":"Acute myeloblastic leukemia with maturation","definition":"A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloblastická leukémie s vyzráváním"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML M2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute myeloblastic leukemia M2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML M2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Akutní myeloblastická leukémie M2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98831","display":"Acute myeloid leukemia with 11q23 abnormalities","definition":"A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie s abnormalitami 11q23"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with 11q23 abnormalities"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AMS s abnormalitami 11q23"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98832","display":"Acute myeloid leukemia with minimal differentiation","definition":"A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloblastická leukémie minimálně diferencovaná"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML M0"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Minimally differentiated acute myeloblastic leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML M0"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98829","display":"Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)","definition":"A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní myeloidní leukémie s abnormálními eozinofily kostní dřeně a inv(16)(p13q22) nebo t(16;16)(p13;q22)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"AML s abnormálními eozinofily kostní dřeně a inv(16)(p13q22) nebo t(16;16)(p13;q22)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98827","display":"Unclassified myelodysplastic syndrome","definition":"Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neklasifikovaný myelodysplastický syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98825","display":"Unclassified myelodysplastic/myeloproliferative disease","definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neklasifikovaná myelodysplastická/myeloproliferativní nemoc"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Unclassified mixed myelodysplastic/myeloproliferatic syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Neklasifikovaný smíšený myelodysplatický/myeloproliferativní syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98826","display":"Myelodysplastic neoplasm with low blasts","definition":"Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Refrakterní anémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDS-LB"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Refractory anemia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98823","display":"Chronic myelomonocytic leukemia","definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature, with blood monocytosis (> 1G/L, constituting > 10% of circulating leukocytes). Is it often associated with blood cytopenia and/or ''proliferative features'' (increased leukocyte counts, splenomegaly), with marrow dysplasia and risk of progression to acute myeloid leukemia (AML).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická myelomonocytická leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMML"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMML"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98824","display":"Atypical chronic myeloid leukemia","definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atypická chronická myeloidní leukémie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Subacute myeloid leukemia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Subakutní myeloidní leukémie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98852","display":"Desquamative interstitial pneumonia","definition":"A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deskvamační intersticiální pneumonie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98851","display":"Mast cell leukemia","definition":"A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Leukémie z žírných buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98853","display":"Autosomal 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neoplasm.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Agresivní systémová mastocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98849","display":"Systemic mastocytosis with associated hematologic neoplasm","definition":"An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Systémová mastocytóza spojená s klonální hematologickou nemocí z jiných buněk než mastocytů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SM-AHN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SM-AHNMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage 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sklerózy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"391"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"98846","display":"Classic Hodgkin lymphoma, lymphocyte-depleted type","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klasický Hodgkinův lymfom, typ lymfocytární 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presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Intravaskulární velkobuněčný B-lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Angioendotheliomatosis proliferans systemisata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Angiotropic large cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intravascular lymphomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Malignant angioendotheliomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Tappeiner-Pfleger disease"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Angioendotheliomatosis proliferans systemisata"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Intravaskulární lymfomatóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maligní angioendoteliomatóza"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tappeinerova-Pflegerova nemoc"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Angiotropní velkobuněčný lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Tappeiner-Pflegerova nemoc"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98842","display":"Lymphomatoid papulosis","definition":"Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lymfomatoidní papulóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LyP"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LyP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98841","display":"Anaplastic large cell lymphoma","definition":"A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anaplastický velkobuněčný lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ALCL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CD30 positive anaplastic large cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ki-1 positive anaplastic large cell lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary systemic ALCL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"sACL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ALCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární systémový ALCL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"sACL"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CD30 pozitivní anaplastický velkobuněčný lymfom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Ki-1 pozitivní anaplastický velkobuněčný lymfom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98867","display":"Hereditary pyropoikilocytosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární pyropoikilocytóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98867"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"288"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"288"}]},{"code":"589608","display":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","definition":"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. 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Brain imaging may show cystic leukoencephalopathy and ventricular dilation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lineární hypopigmentace a kraniofaciální asymetrie s akrálními, očními a mozkovými anomáliemi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"RHOA-related mosaic ectodermal 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It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kolobom papily zrakového nervu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Coloboma of optic papilla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98948","display":"Congenital symblepharon","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený symblefaron"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"91396"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"98945","display":"Coloboma of macula","definition":"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kolobom makuly"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98946","display":"Coloboma of eyelid","definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kolobom víčka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98943","display":"Coloboma of eye lens","definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kolobom čočky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98944","display":"Coloboma of iris","definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kolobom duhovky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98958","display":"Climatic droplet keratopathy","definition":"A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klimatická kapičková keratopatie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Honey-droplet corneal dystrophy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98957","display":"Gelatinous drop-like corneal dystrophy","definition":"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Želatinózní kapkovitá korneální dystrofie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GDCD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary familial amyloidosis of the cornea"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Subepithelial amyloidosis of the cornea"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"GDCD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární familiární amyloidóza rohovky"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Subepiteliální amyloidóza rohovky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98956","display":"Epithelial basement membrane dystrophy","definition":"A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mikrocystická dystrofie rohovky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Anterior basement membrane dystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cogan microcystic epithelial dystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EBMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Map-dot-fingerprint 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corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Meesmannova dystrofie rohovky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Juvenile hereditary epithelial dystrophy of Meesmann"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MECD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Meesmannova dystrofie (juvenilní hereditární epitelová 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oculomotor nerve to the levator palpebrae superioris. 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stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mřížková dystrofie rohovky, typ I"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Biber-Haab-Dimmer dystrophy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Classic lattice corneal 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Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plicní tepna vycházející z aorty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hemitruncus arteriosus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pulmonary artery coming from the aorta"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hemitruncus arteriosus"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Abnormální počátek pravé nebo levé plicní tepny z aorty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99049","display":"Pulmonary artery coming from patent ductus arteriosus","definition":"Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. 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Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Padákovitá trikuspidální chlopeň"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99055","display":"Congenital anomaly of the tricuspid valve chordae","definition":"A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomálie šlašinek trikuspidální chlopně"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital anomaly of tricuspid chordae tendineae"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital anomaly of tricuspid tendinous chords"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99058","display":"Hypoplasia of the mitral valve annulus","definition":"A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypoplázie anulu mitrální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99057","display":"Congenital mitral stenosis","definition":"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozená mitrální stenóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99060","display":"Congenital unguarded mitral orifice","definition":"Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozené nechráněné mitrální orificium"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99059","display":"Congenital supravalvular mitral ring","definition":"Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vrozený supravalvulární mitrální prstenec"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99062","display":"Mitral valve agenesis","definition":"Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ageneze mitrální chlopně"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99061","display":"Accessory mitral valve tissue","definition":"A rare congenital non-syndromic heart malformation characterized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. 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Severity and rate of progression vary among affected individuals ; some patients may have laryngeal or cervical dystonia as a life-long isolated feature, however most patients present with dystonia in other body sites.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární dystonie, typ DYT4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DYT4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary whispering dysphonia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DYT4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární šeptavá dysfonie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98788","display":"Pitt-Rogers-Danks syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pittův-Rogersův-Danksův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intellectual disability-dysmorphism-intrauterine growth retardation syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující mentální retardaci, dysmorfismus a intrauterinní růstovou retardaci"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Pitt-Rogers-Danksův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98788"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"280"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"280"}]},{"code":"98784","display":"Sleep-related hypermotor epilepsy","definition":"A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní noční epilepsie frontálního laloku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ADNFLE"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant nocturnal frontal lobe epilepsy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal dominant sleep-related hypermotor epilepsy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SHE"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ADNFLE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98764","display":"Spinocerebellar ataxia type 27A","definition":"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 27"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA27A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA27"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98763","display":"Spinocerebellar ataxia type 14","definition":"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 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characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 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and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 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autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA8"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98759","display":"Spinocerebellar ataxia type 17","definition":"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 17"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HDL4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Huntington disease-like 4"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA17"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HDL4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Huntingtonská fenokopie 4"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA17"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98762","display":"Spinocerebellar ataxia type 12","definition":"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 12"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA12"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA12"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98761","display":"Spinocerebellar ataxia type 10","definition":"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 10"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA10"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA10"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98772","display":"Spinocerebellar ataxia type 19/22","definition":"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 19/22"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA19/22"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA19/22"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98771","display":"Spinocerebellar ataxia type 18","definition":"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinocerebelární ataxie, typ 18"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SCA18"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SCA18"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"98773","display":"Spinocerebellar ataxia type 21","definition":"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). 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It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní spastická paraplegie, typ 8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG8"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG8"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"686465","display":"Fibrotic hypersensitivity pneumonitis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibrotická hypersenzitivní pneumonitida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686465"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"31740"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"100988","display":"Autosomal dominant spastic paraplegia type 6","definition":"A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. 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Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 5A"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG5A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG5A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100985","display":"Autosomal dominant spastic paraplegia type 4","definition":"A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. 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Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. Metabolic complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. Intellectual disability has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující lipodystrofii a demyelinizační periferní senzoricko-motorickou neuropatii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLAAT3-related lipodystrophy syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100997","display":"X-linked spastic paraplegia type 16","definition":"A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. 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Craniofacial dysmorphism is reported in all patients with the most common features being high/broad forehead, depressed/wide nasal bridge, short nose, small mouth with tented upper lip vermilion and myopathic facial expression with open mouth. 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Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. 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Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 26"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GM2 synthase deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG26"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Deficit GM2 syntázy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG26"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"687738","display":"Single-system multifocal Langerhans cell histiocytosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jednosystémová multifokální histiocytóza z Langerhansových buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-system multifocal Langerhans cell granulomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-system multifocal histiocytosis X"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"389"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"101003","display":"Autosomal recessive spastic paraplegia type 23","definition":"Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). 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Patients can have symptoms like dyspnea, cough and fever but most of them are asymptomatic, and they may undergo spontaneous remission. It is predominantly observed in young smokers or ex-smokers.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Plicní histiocytóza z Langerhansových buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-system pulmonary Langerhans cell histiocytosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-system pulmonary histiocytosis X"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLCH"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Single-system Langerhans cell granulomatosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"389"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"101004","display":"Autosomal recessive spastic paraplegia type 24","definition":"A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 24"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG24"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG24"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"687730","display":"Unifocal Langerhans cell histiocytosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Unifokální histiocytóza z Langerhansových buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Unifocal Langerhans cell granulomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Unifocal histiocytosis X"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"389"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"101001","display":"Autosomal recessive spastic paraplegia type 21","definition":"Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní spastická paraplegie, typ 21"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mast syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SPG21"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"SPG21"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom žírných 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deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"693832","display":"Gastrointestinal tract arteriovenous malformation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gastrointestinal tract arteriovenous 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Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ileální endokrinní nádor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ileal neuroendocrine neoplasm"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"693826","display":"Pancreatic arteriovenous malformation","definition":"A rare visceral arteriovenous malformation of the pancreas characterized by abnormal blood flow from the arterial system directly into the venous system without passing through the capillaries. Patients may present with episodic gastrointestinal bleeding or hemoperitoneum, epigastric or abdominal pain, pancreatitis, portal hypertension, and pseudocysts. Some patients remain asymptomatic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pancreatic arteriovenous malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arteriovenous malformation of the pancreas"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100079","display":"Neuroendocrine neoplasm of appendix","definition":"A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endokrinní nádor appendixu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Appendiceal NEN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Appendiceal neuroendocrine neoplasm"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NEN of appendix"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"693815","display":"Uterine arteriovenous malformation","definition":"A rare visceral arteriovenous malformation characterized by abnormal connections between uterine arteries and veins. Vaginal bleeding is the most common clinical feature, may be very severe, and is refractory to conventional treatments. Variable clinical features may include abdominal pulsatile masses, frequent urination or urinary incontinence, dyspareunia, and hematuria. Some patients remain asymptomatic.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uterine arteriovenous malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arteriovenous malformation of the uterus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UAVM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"UVM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Uterine vascular malformation"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693815"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100076","display":"Duodenal neuroendocrine tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Duodenální endokrinní nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"693802","display":"Neonatal/infantile-onset epilepsy syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neonatal/infantile-onset epilepsy syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693802"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"100077","display":"Jejunal neuroendocrine tumor","definition":"Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Jejunální endokrinní nádor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Jejunal neuroendocrine neoplasm"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"693863","display":"Splenic arteriovenous malformation","definition":"A rare visceral arteriovenous malformation characterized by abnormal communication between splenic artery and the splenic vein at the level of the splenic hilum. These malformations may lead to the formation of splenic artery aneurysms that can rupture. Clinical features include abdominal pain, hematemesis, melena, diarrhea, and portal hypertension due to venous congestion. The spleen is typically enlarged with extensive areas of infarction and dilated vessels.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Splenic arteriovenous malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arteriovenous malformation of the spleen"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100082","display":"Neuroendocrine tumor of anal canal","definition":"A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endokrinní nádor análního kanálu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NET of anal canal"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"693855","display":"Visceral fast-flow vascular malformation","definition":"A group of rare fast-flow arteriovenous malformation characterized by abnormal communication between the arterial and the venous systems of the internal organs. They are more commonly observed in patients with multifocal vascular malformations. Clinical manifestations depend on the organ involved; however, they usually include abdominal pain, hemorrhage, chronic anemia, fatigue, gastrointestinal bleeding, hemoptysis and hypoxia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Visceral fast-flow vascular malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arteriovenous malformation of internal organs"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Visceral arteriovenous malformation"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693855"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"100083","display":"Laryngeal neuroendocrine tumor","definition":"A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Laryngeální endokrinní nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100080","display":"Neuroendocrine tumor of the colon","definition":"A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endokrinní nádor tlustého střeva"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Colonic NET"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NET of the colon"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neuroendocrine neoplasm of the colon"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"693846","display":"Hepatic arteriovenous malformation","definition":"A rare visceral arteriovenous malformation characterized by direct arterial-to-venous connections within the liver. Patients may be asymptomatic or present with symptoms such as anemia, consumptive coagulopathy, portal hypertension, hepatomegaly and may develop complications including congestive heart failure, necrosis of the liver or hydrops fetalis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hepatic arteriovenous malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arteriovenous malformation of the liver"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital hepatic arteriovenous malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAVM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"693839","display":"Renal arteriovenous malformation","definition":"A rare visceral arteriovenous malformation characterized by abnormal communications between renal arteries and the venous system. Most cases are asymptomatic but patients may present with clinical symptoms including hematuria, nausea, lumbar and abdominal pain, hypertension, cardiomegaly and high output heart failure. This type of malformation is more commonly reported in females.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Renal arteriovenous malformation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arteriovenous malformation of the kidney"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"rAVM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100081","display":"Neuroendocrine tumor of the rectum","definition":"Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endokrinní nádor rekta"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NET of the rectum"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rectal NET"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rectal neuroendocrine tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rektální endokrinní nádor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100020","display":"Myelodysplastic neoplasm with increased blasts type 2","definition":"A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). 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It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMTDIB"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMTDIB"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"689829","display":"Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mikroftalmii, motorické opoždění, opoždění řeči, mozkové anomálie a brániční kýlu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100045","display":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C","definition":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMTDIC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMTDIC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"689822","display":"Structural heart defects-renal anomalies syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující strukturální srdeční vady a anomálie ledvin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SHDRA syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Severe congenital heart defects-renal anomalies syndome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100046","display":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D","definition":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ D"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMTDID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMTDID"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ D"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100047","display":"Isolated esophageal duplication cyst","definition":"A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. 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The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární dětská intersticiální plicní choroba způsobená anomálií proteinových komponent plicního surfaktantu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary ILD specific to childhood due to pulmonary surfactant protein anomalies"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Primární ILD vyskytující se v dětství způsobená anomálií proteinových komponent plicního surfaktantu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"100050","display":"Hereditary angioedema type 1","definition":"A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hereditární angioedém, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hereditary angioneurotic edema type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAE 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAE-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"HAE-I"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hereditární angioneurotický edém, typ 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"528623"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"100016","display":"Lissencephaly with cerebellar hypoplasia type F","definition":"A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie s pontocerebelární hypoplázií, typ F"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100015","display":"Lissencephaly with cerebellar hypoplasia type E","definition":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie s pontocerebelární hypoplázií, typ E"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"647667","display":"Mandibuloacral dysplasia associated to MTX2","definition":"A rare primary bone dysplasia characterized by postnatal growth retardation, generalized lipodystrophy, skeletal (delayed closure of sutures, clavicular hypoplasia, dysplastic femoral head, acroosteolysis of distal phalanges, osteopenia/osteoporosis) and cardiac manifestations (including left ventricular hypertrophy, mitral valve calcifications/prolapse/insufficiency and mitral regurgitation), skin changes (atrophic skin, poikiloderma and hyperkeratosis), progeroid traits, and dysmorphic facial features (including prominent eyes, long pinched nose, full cheeks, microstomia and mandibular hypoplasia). Most of the patients also present with sparse body hair, nail dystrophy, joint contracture, hypotonia, hepatosplenomegaly and hypertension. Additional clinical features may include renal glomerulosclerosis and severe proteinuria, recurrent pulmonary infections and seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mandibuloakrální dysplázie spojená s MTX2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MADaM"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MDPS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mandibuloacral dysplasia progeroid syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"647676","display":"Multiple epiphyseal dysplasia type 7","definition":"A rare multiple epiphyseal dysplasia characterized by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois dysplasia, including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the ''Swedish key'' appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois dysplasia like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centers and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mnohočetná epifyzární dysplázie, typ 7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CANT1-related multiple epiphyseal dysplasia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EDM7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MED7"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"646113","display":"Intermediate collagen VI-related muscular dystrophy","definition":"A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Střední svalová dystrofie související s kolagenem VI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Intermediate COL6-RD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100012","display":"Lissencephaly with cerebellar hypoplasia type B","definition":"A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie s pontocerebelární hypoplázií, typ B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"646136","display":"Dysplastic cortical hyperostosis, Al-Gazali type","definition":"A rare dysplastic cortical hyperostosis characterized by brachycephaly, short, poorly modeled tubular bones with wide diaphysis and smooth, rounded metaphyses, extremities with severe brachydactyly and facial dysmorphism (including flat face, hypertelorism and low-set ears). Additional clinical features include hypoplastic thorax and hypertrichosis. Histology of the bone tissue and the growth plate are normal. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysplastická kortikální hyperostóza, typu Al-Gazali"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"646139"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"100011","display":"Lissencephaly with cerebellar hypoplasia type A","definition":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie s pontocerebelární hypoplázií, typ A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"646139","display":"Dysplastic cortical hyperostosis","definition":"A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysplastická kortikální hyperostóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100014","display":"Lissencephaly with cerebellar hypoplasia type D","definition":"A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (&#8804; -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie s pontocerebelární hypoplázií, typ D"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"646278","display":"CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome","definition":"A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s CDK13 zahrnující vrozené srdeční defekty, intelektovou nedostatečnost a faciální dysmorfii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CDK13-related disorder"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"100013","display":"Lissencephaly with cerebellar hypoplasia type C","definition":"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lisencefalie s pontocerebelární hypoplázií, typ C"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"645854","display":"Multifocal tuberculosis","definition":"A rare tuberculosis characterized by two or more extra-pulmonary lesions caused by <i>M. tuberculosis</i> with or without pulmonar involvement, mostly occur in immunocompromised patients. It may affect any site including liver, lymph nodes, lungs, pleura, and the joints. Cutaneous and/or skeletal involvement are rarely reported. Cutenous forms include gummas, scrofuloderma, vasculitis and lupus tuberculosis. Skeletal involvement, that may affect one or more joints, can be dominated by the involvement of large joints that support greater weigh loads, such as the knees and hips and the spine. The symptoms are usually nonspecific, and the disease often presents with an indolent clinical course. Risk factors include human immunodeficiency viruses, immunosuppression due to diverse causes, smoking, malnutrition, diabetes, and stress.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Multifokální tuberkulóza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645854"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3389"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"100008","display":"ACys amyloidosis","definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. 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Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. 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Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. 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It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Terminální myelocystokéla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"645340","display":"Non-terminal myelocystocele","definition":"A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neterminální myelocystokéla"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99981","display":"Apnea of prematurity","definition":"A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. 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There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaný lipom filum terminale"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lipoma of the filum terminale"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"645334","display":"Retained medullary cord","definition":"A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). 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The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vakovitá dysrafie míchy se stopkou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"99978","display":"Perihilar cholangiocarcinoma","definition":"Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klatskinův nádor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hilar CCA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Hilar cholangiocarcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Klatskin tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hilový CCA"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hilový cholangiokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99977","display":"Squamous cell carcinoma of the esophagus","definition":"Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dlaždicobuněčný karcinom jícnu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ESCC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Esophageal epidermoid carcinoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Esophageal squamous cell carcinoma"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ESCC"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Epidermoidní karcinom jícnu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"645322","display":"Isolated transitional filum lipoma","definition":"A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. 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GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. 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The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. 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It is composed of proliferating mature adipocytes.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dobře diferencovaný liposarkom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ALT"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Atypical lipoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Atypical lipomatous tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"WDLS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ALT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Atypický lipom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Atypický lipomatózní nádor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"WDLS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"69078"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"645291","display":"Transitional extramedullary conus spinal cord lipoma","definition":"A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-\"transitional\" between posterior and terminal conus region spinal cord lipoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Přechodný extramedulární lipom konusu míšního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"645297"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99969","display":"Pleomorphic liposarcoma","definition":"Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Pleomorfní liposarkom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PLS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99969"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"69078"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"645285","display":"Chaotic conus spinal cord lipoma","definition":"A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chaotický lipom konusu míšního"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99970","display":"Dedifferentiated liposarcoma","definition":"Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dediferencovaný liposarkom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DDLS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"DDLS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"69078"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"645282","display":"Anomaly of the filum","definition":"A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Anomálie filu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"99967","display":"Myxoid/round cell liposarcoma","definition":"Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Myxoidní liposarkom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MRCLS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MRCLS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"69078"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21457","display":"Histopathological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"645279","display":"Fibrolipomatous filum anomaly","definition":"A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Fibrolipomatózní anomálie filum terminale"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"645276","display":"Spinal cord lipoma","definition":"A rare group of malformation characterized by the presence of lipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Lipom míchy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"99965","display":"O'Sullivan-McLeod syndrome","definition":"A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"O'Sullivanův-McLeodův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"O'Sullivan-McLeodův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99965"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"645273","display":"Dysraphic spinal cord lipoma","definition":"A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysrafický lipom míchy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"645270","display":"Open spinal dysraphism with a posterior meningocele","definition":"A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Otevřená spinální dysrafie se zadní meningokélou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"99966","display":"Atypical teratoid rhabdoid tumor","definition":"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atypický teratoidní rhabdoidní nádor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ATRT"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ATRT"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"645202","display":"Closed spinal dysraphism","definition":"A rare group of spinal dysraphisms, also referred to as spina bifida occulta, with a high variability in terms of severity,characterized by the absence of exposed neural tissue. The skin overlying the abnormality remains intact although the skin itself may be abnormal with features such as hairy patch of skin, crater or haemangioma. These skin features are known as the cutaneous stigmata of spinal dysraphism.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Uzavřená spinální dysrafie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Closed spina bifida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Occult spina bifida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spina bifida occulta"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"99961","display":"Benign recurrent intrahepatic cholestasis type 2","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Benigní rekurentní intrahepatální cholestáza, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BRIC type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BRIC2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BRIC typ 2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BRIC2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"65682"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"645196","display":"Limited dorsal myeloschisis","definition":"A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Omezená dorzální myeloschíza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LDM"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"645193","display":"Dysraphism with stalk","definition":"A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dysrafie se stopkou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"645188","display":"Spinal dermal sinus","definition":"A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spinální dermální sinus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Dermal sinus tract"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99960","display":"Benign recurrent intrahepatic cholestasis type 1","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Benigní rekurentní intrahepatální cholestáza, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BRIC type 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BRIC1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BRIC typ 1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"BRIC1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"65682"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"643549","display":"Hao-Fountain syndrome","definition":"A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of <i>USP7</i> gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Haoův-Fountainův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAFOUS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Hao-Fountainův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643549"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"643538","display":"Hao-Fountain syndrome due to USP7 mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Haoův-Fountainův syndrom způsobený mutací USP7"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HAFOUS due to USP7 mutation"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"643549"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"99955","display":"Charcot-Marie-Tooth disease type 4B1","definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Charcotova-Marieova-Toothova nemoc, typ 4B1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT4B1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT4B1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Charcot-Marie-Toothova nemoc, typ 4B1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"643503","display":"Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Addinitonal clinical features may include gastrointestinal problems, lipodystrophy&#8208;like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující marfanoidní habitus, faciální dysmorfii, kosterní abnormality a srdeční vadu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99956","display":"Charcot-Marie-Tooth disease type 4B2","definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Severe visual impairment leading to visual loss, usually associated with glaucoma, and vocal cord paresis, has also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Charcotova-Marieova-Toothova nemoc, typ 4B2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT4B2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT4B2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Charcot-Marie-Toothova nemoc, typ 4B2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99948","display":"Charcot-Marie-Tooth disease type 4A","definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing axonal, demyelinating, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Charcotova-Marieova-Toothova nemoc, typ 4A"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT4A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT4A"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Charcot-Marie-Toothova nemoc, typ 4A"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99947","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2A2","definition":"A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2A2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2A2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2A2"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2A2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99950","display":"Charcot-Marie-Tooth disease type 4D","definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. It was initially reported in the Lom Roma community due to a common founder variant, and called hereditary motor and sensory neuropathy, Lom type. 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A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Charcotova-Marieova-Toothova nemoc, typ 4C"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT4C"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT4C"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Charcot-Marie-Toothova nemoc, typ 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Some patients have thenar and hypothenar hypoplasia. 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It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2F"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CMT2F"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"CMT2F"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2F"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99939","display":"Autosomal dominant Charcot-Marie-Tooth disease type 2E","definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. 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Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Invazivní mola"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"648569","display":"Non-HFE-related hemochromatosis","definition":"A group of genetic disorders of iron overload comprising the rarer forms of hemochromatosis (HC), characterized by a phenotype of severe tissue iron deposition. These rare forms are HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis and SLC40A1-related hemochromatosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemochromatóza nesouvisející s HFE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"99926","display":"Gestational choriocarcinoma","definition":"A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gestační choriokarcinom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99927","display":"Hydatidiform mole","definition":"A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hydatiformní mola"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Molar pregnancy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Molární těhotenství"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"648665","display":"Infectious scleritis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Infekční skleritida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648665"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99928","display":"Placental site trophoblastic tumor","definition":"A rare gestational trophoblastic neoplasm characterized histologically by invasion of myometrium by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is usually absent and hemorrhage is mild. The tumor develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cytotrofoblastický choriokarcinom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PSST"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"PSST"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"648681","display":"Immune-mediated scleritis","definition":"A rare scleritis characterized by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotizing. Systemic clinical signs depend on the underlying disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Imunitně podmíněná skleritida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648681"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99930","display":"Secondary pulmonary hemosiderosis","definition":"Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární plicní hemosideróza"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"648675","display":"Idiopathic scleritis","definition":"A rare form of scleritis characterized by tender or painful, violet-blueish eye, with edema and injection of deep scleral vessels, in the absence of infection or systemic autoimmune diseases. It can be unilateral or bilateral. Other ocular signs depend on the localisation (anterior or posterior) and on the type of scleritis (diffuse, nodular or necrotizing). Extension to other layers of the eye and to peri-ocular tissues as well as visual impairment are potential complications. Idiopathic scleritis is more frequent in children than in adults.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická skleritida"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648675"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99918","display":"Streptococcal toxic-shock syndrome","definition":"Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a <i>Streptococcus pyogenes</i> infection.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Streptokokový syndrom toxického šoku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Streptococcal TSS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Streptokokový 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oligomenorrhea) and, occasionally, Cushing syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dále nespecifikovaný maligní nádor ovaria s produkcí steroidů z thekálních buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Theca (steroid-producing) cell cancer, not further specified"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dále nespecifikovaná rakovina z thekálních buněk produkujících 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functional.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maligní nádor ovaria ze Sertoliho-Leydigových buněk"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Androblastoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Arrhenoblastoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian Sertoli-Leydig cell cancer"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ovarian malignant Sertoli-Leydig cell tumor"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Virilizing ovarian 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The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maligní nádor ovaria z buněk granulózy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Granulosa cell cancer"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Granulosa cell malignant tumor"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Rakovina z buněk granulózy"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Maligní nádor z buněk granulózy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99922","display":"Ocular cicatricial pemphigoid","definition":"A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Oční pemfigoid"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99922"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99921","display":"Chronic graft versus host 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It is bilateral in about 20% of cases, although the contralateral tumor may not be evident on macroscopic examination. Histopathologically, tumor cells are uniform rounded primitive germ cells with clear cytoplasm and macronucleoli, arranged in nests or cords separated by thin fibrous septa containing lymphocytes. 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Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kombinovaná imunodeficience způsobená deficitem FCHO1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99900","display":"Long chain acyl-CoA dehydrogenase deficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit dehydrogenázy acyl-CoA s dlouhým řetězcem"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"LCAD"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"LCAD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99900"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-deprecated","display":"Inactive: Deprecated"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"26793"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"moved-to","valueCode":"26793"}]},{"code":"99905","display":"Streptobacillary rat-bite fever","definition":"A rare systemic bacterial zoonosis characterized by high fever, chills, headache, and nausea associated with arthralgia and a morbilliform or purpuric rash of the extremities. It is caused by the aerobic Gram-negative bacterium <i>Streptobacillus moniliformis</i> and is transmitted to humans through the bites and scratches of infected rats.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Streptobacilární horečka z krysího kousnutí"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Haverhillská horečka"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99905"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"31205"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"647916","display":"Conjoined twins","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Siamská dvojčata"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Siamese twins"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99906","display":"OBSOLETE: Farmer's lung disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Farmářská plíce"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99906"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"31740"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"31740"}]},{"code":"647834","display":"SLC40A1-related hemochromatosis","definition":"A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemochromatóza asociovaná s SLC40A1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99903","display":"Spirillary rat-bite fever","definition":"A rare bacterial zoonosis characterized by inflammation which appears at the site of a rat bite or scratch that becomes painful, indurated, edematous and may ulcerate. The inflammation is followed by fever, vomiting and chills and is associated with local lymphadenopathy. 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It is typically associated with the development of a form of adrenal Cushing syndrome (CS). 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Most of the patients present with postnatal-onset, progressive multisutural synostosis, including sagittal and uni/bi-lambdoid sutures (predominated patterns), coronal synostosis or pansynostosis. Permanent visual impairment due to raised intracranial pressure was reported in some patients. Facial dysmorphism including prominent forehead, orbital hypertelorism, mild exorbitism and malar hypoplasia, medial epicanthic folds and short up-turned nose is commonly observed. Hydrocephalus, macrocephaly, low set ears, dysplactic auricles, long philtrum, vertical displacement of the nose and high arched palate are also reported in some patients. Additional clinical findings may include hearing impairment and mild shortening of the digits.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující kraniosynostózu, faciální dysmorfii, Chiariho malformaci typu 1 a opoždění vývoje a řeči"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ERF-related syndromic craniosynostosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99892","display":"ACTH-dependent Cushing syndrome","definition":"A group of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"ACTH dependentní Cushingův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ACTH-dependent CS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adrenocorticotropic hormone-dependent Cushing syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Corticotropin-dependent Cushing syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"ACTH-dependentní CS"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Adrenokortikotropní hormon-dependentní Cushingův syndrom"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Kortikotropin-dependentní Cushingův syndrom"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"647799","display":"MYT1L-related developmental delay-intellectual disability-obesity syndrome","definition":"A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions), non-specific magnetic resonance imaging (brain MRI) abnormalities, ophthalmologic abnormalities, epilepsy, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vývojové opoždění, mentální retardaci a obezitu asociovaný s MYT1L"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MYT1L-associated neurodevelopmental disorder"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"647794","display":"Isolated persistent urogenital sinus","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaný perzistující urogenitální sinus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated PUGS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99898","display":"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency","definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Dědičný sklon k mykobakteriálním nemocem způsobený úplným deficitem IFN-gamaR1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSMD due to complete IFNgammaR1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSMD due to complete interferon gamma receptor 1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSMD způsobená úplným deficitem IFN-gamaR1"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"MSMD způsobená úplným deficitem receptoru 1 interferonu gama"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Dědičný sklon k mykobakteriálním nemocem způsobený úplným deficitem receptoru 1 interferonu gama"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"647788","display":"Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome","definition":"A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterized by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. 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Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující neurovývojové opoždění, mentální retardaci, ataxii a obtíže s krmením"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"DHX30-related neurodevelopmental disorder"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"647782","display":"Isolated micronodular adrenocortical disease","definition":"A rare adrenocortical nodular disease characterized by bilateral, multiple micronodules (<1&nbsp;cm), typically associated with endogenous Cushing syndrome, that occurs predominantly in children and young adults (females in majority). 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It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekundární syringomyelie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"652681","display":"Idiopathic subglottic stenosis","definition":"A rare otorhinolaryngologic disease characterized by recurrent and severe obstruction of the central airway in the region bounded superiorly by a plane below the glottis and inferiorly by the first two tracheal rings. Symptoms may involve respiratory distress, dysphonia, exertional dyspnea, stridor, chronic cough and wheezing. Diagnosis is challenging due to the lack of apparent etiology and nonspecific respiratory symptoms that can be confounded with other common respiratory diseases and may also occur in late course of the disease. Thorough clinical and laboratory evaluation aims to exclude other causes of subglottic stenosis is therefore essential. Affected patients are almost exclusively Caucasian women between 30-60&nbsp;years old.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická subglotická stenóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"iSGS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652681"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"652678","display":"Primary inferior vena cava aneurysm","definition":"A rare primary vascular anomaly, characterized by saccular or rarely fusiform aneurysm of the inferior vena cava. Patients may present with chest pain, abdominal pain, back pain, lower extremity pain and edema, fatigue and fainting. Deep venous thrombosis, penile hemorrhage, paradoxical cerebral embolism and pulmonary embolism can also be observed. It is usually incidentally detected during ultrasound or computed tomography scan examinations or in patients with thromboembolic disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární aneuryzma vena cava inferior"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99858","display":"Idiopathic syringomyelia","definition":"Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Idiopatická syringomyelie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"99856"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"652668","display":"Primary superior vena cava aneurysm","definition":"A rare primary vascular anomaly characterized by mostly fusiform, rarely saccular aneurysm of the superior vena cava. Patients can be asymptomatic or manifest mostly with dyspnea, chest pain, pain in the retrosternal region, hypotension, acute upper or lower respiratory tract infection symptoms and left arm paresthesias. It is usually incidentally detected due to the presence of mediastinal shadow in X-ray.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární aneuryzma vena cava superior"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SVCA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99856","display":"Primary syringomyelia","definition":"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární syringomyelie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital syringomyelia"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Vrozená syringomyelie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"652658","display":"Monomorphic epitheliotropic intestinal T-cell lymphoma","definition":"A rare T-cell non-Hodgkin lymphoma characterized by monomorphic cytomorphology and epitheliotropism. It is mostly detected in the small intestine but can also be present in the colon, duodenum and stomach. It is an aggressive tumor that can disseminate to mesenteric lymph nodes, lung, liver, brain and skin. Major clinical features include abdominal pain, gastrointestinal bleeding, obstruction or perforation, diarrhoea, and weight loss. It is not associated to coeliac disease.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Monomorfní epiteliotropní střevní T-buněčný lymfom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Enteropathy-associated T-cell lymphoma type 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MEITL"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99853","display":"Ovarioleukodystrophy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Ovarioleukodystrofie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"135"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"652650","display":"Nodal T-follicular helper cell lymphoma, follicular type","definition":"A rare T-cell non-Hodgkin lymphoma characterized by generalized lymphadenopathy and predominantly follicular or perifollicular growth pattern, consistent with the expression of T-follicular helper markers. Affected individuals distinctly lack histologic features (such as proliferation of high endothelial venules and expanded follicular dendritic meshworks) typically associated to angioimmunoblastic T-cell lymphoma. It affects elderly individuals (mostly at the sixth decade of life) that present with advanced-stage disease. Majority of the cases have disseminated nodal involvement, whereas involvement of extranodal sites including skin, liver, spleen and bone marrow are also reported. Patients may therefore develop skin rash and immune manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nodální T-folikulární lymfom z pomocných buněk, folikulární typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Follicular T-cell Lymphoma"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Follicular helper T-cell lymphoma, follicular type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nodal T-cell lymphoma with TFH phenotype"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Nodal TFH lymphoma, follicular type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"nTFHL-F"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99854","display":"Cree leukoencephalopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Kríjská leukoencefalopatie"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"135"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"652532","display":"Adult-onset progressive leukoencephalopathy-early-onset deafness","definition":"A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Progresivní leukoencefalopatie a časná hluchota s nástupem v dospělosti"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adult-onset progressive leukoencephalopathy-early-onset hearing loss"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"652528","display":"Supernumerary kidney","definition":"A rare non-syndromic renal/urinary tract malformation characterized by the presence of more than two kidneys (up to five), each of which mostly has its own collecting system, vascular supply, and distinct encapsulated parenchyma. The additional kidney(s), smaller than native ones, mostly occurs ipsilateral and caudal to the left kidney and may be fused to the native kidneys. Patients are usually asymptomatic but they may present with symptoms such as pain, a palpable abdominal mass, fever and sometimes with urinary symptoms (such as urinary incontinence) when supernumerary kidneys occur with an ectopic ureter. Additional congenital abnormalities including horseshoe kidney malformation, ventricular septal defect, and cloacal abnormalities (such as urethral atresia, vaginal atresia, ectopic ureter implantation, imperforate anus, and duplication of urethra) may also be present in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Nesyndromické nadpočetné ledviny"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Accessory kidney"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99852","display":"Ravine syndrome","definition":"Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"RAVINE syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Progressive encephalopathy with severe infantile anorexia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Progresivní encefalopatie s těžkou dětskou anorexií"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom zahrnující anorexii ostrova Reunion, nepotlačitelné zvracení a neurologické znaky"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"652522","display":"Periodic fever-immunodeficiency-thrombocytopenia syndrome","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující periodickou horečku, imunodeficienci a trombocytopenii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PFITS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99832","display":"Resistance to thyrotropin-releasing hormone syndrome","definition":"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom rezistence k tyreotropin-releasing hormonu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Central hypothyroidism due to TRH receptor deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TRH resistance syndrome"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Syndrom TRH rezistence"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Centrální hypotyreóza způsobená deficitem TRH 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virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Žlutá zimnice"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bronze John"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"YF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Yellow 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Patients present with larger microdeletions that encompass the <i>GLI3</i> gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom Greigovy cefalopolysyndaktylie a přilehlých genů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"GCP-CGS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"658810","display":"Atrophoderma of Pasini and Pierini","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Atrofodermie Pasiniho a Pieriniho"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658810"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"99771","display":"Bifid uvula","definition":"Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Rozštěp uvuly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bifidity of the uvula"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Uvular cleft"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"658917","display":"Clonorchiasis","definition":"A rare parasitic disease characterized by infection with the trematode <i>Clonorchis sinensis</i> (Chinese or oriental liver fluke) through ingestion of metacercarial cysts via infected raw or undercooked fish. Clinical symptoms are related to worm burden. Most acute infections are asymptomatic or present with mild abdominal symptoms. Patients with high worm burdens experience fever, headache, right upper-quadrant abdominal pain, and intermittent colic pain caused by the worms obstructing the gallbladder. 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Adult worms are the largest flukes infecting humans and attach to and ulcerate the mucosa of the proximal small bowel. Patients may be asymptomatic or present abdominal pain, vomiting, diarrhea, and signs of malabsorption, potentially also intestinal obstruction, 30 to 60&nbsp;days after exposure. Peripheral eosinophilia may be observed. 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Infection occurs primarily in the lungs and pleura of affected individuals, presenting with a pulmonary disease resembling tuberculosis (including chest pain, cough, and hemoptysis). 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Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková forma schwannomatózy asociovaná s NF2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MNF2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic NF2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic neurofibromatosis type 2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"634492","display":"Mosaic schwannomatosis","definition":"A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková forma schwannomatózy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MNF3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic SWN"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic neurilemmomatosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic neurofibromatosis type 3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"634511","display":"Mosaic Legius syndrome","definition":"A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome, namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaikovová forma Legiusova syndromu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic NF1-like syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic neurofibromatosis 1-like syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"634518","display":"Neurofibromatosis/schwannomatosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Neurofibromatóza/schwannomatóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NF/SWN"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634518"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"634461","display":"Mosaic neurofibromatosis type 1","definition":"A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Mozaiková neurofibromatóza, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MNF1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mosaic NF1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633228","display":"Isolated proximal femoral focal deficiency","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Proximální fokální femorální deficience"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CPFD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Isolated congenital proximal femoral deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PFFD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"637064","display":"Isolated optic nerve aplasia","definition":"A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná aplázie zrakového nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"637061","display":"Isolated optic nerve hypoplasia","definition":"A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the ''double-ring'' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Izolovaná hypoplázie zrakového nervu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"636970","display":"Autosomal recessive myosin storage myopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní myopatie s ukládáním myozinu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSMB"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"53698"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"636965","display":"Autosomal dominant myosin storage myopathy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní myopatie s ukládáním myozinu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MSMA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"53698"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"637051","display":"Borna virus encephalitis","definition":"A rare infectious disease characterized by severe non-purulent meningoencephalitis caused by Borna disease virus 1 (BoDV-1). Patients present with fever, headache, malaise, and fatigue, followed after a few days by nausea, confusion and disorientation, and psychomotor slowing. Ataxia, aphasia, dyspnea, multifocal myoclonic jerks, and paraplegia have been described. The condition is very often fatal after progress to lethargy, deteriorating brain stem reflexes, and coma. Examination of the cerebrospinal fluid reveals moderate lympho-monocytic pleocytosis and presence of BoDV-1 RNA.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Bornavirová encefalitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Bornavirus encephalitis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"637013","display":"SMARCA2-related blepharophimosis-intellectual disability syndrome","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující blefarofimózu a mentální retardaci asociovaný se SMARCA2"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"636945","display":"Invasive candidiasis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Invazivní kandidóza"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Disseminated candidiasis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Systemic candidiasis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636945"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"636941","display":"Vascular Ehlers-Danlos-polymicrogyria syndrome","definition":"A rare type of Ehlers-Danlos syndrome characterized by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally-accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay, and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vaskulární Ehlersův-Danlosův syndrom a polymikrogyrii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Vascular EDS with polymicrogyria"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"636955","display":"Endemic pemphigus foliaceus","definition":"A rare autoimmune bullous skin disease characterized by the formation of subcorneal blisters mediated by autoantibodies against desmoglein 1, affecting predominantly seborrheic areas such as the head, neck, and upper trunk, but without any mucosal involvement. The lesions may be worsened by exposure to UV light and typically progress over weeks or months. The disease frequently occurs in children and young adults and is endemic to rural areas of Brazil and other countries in South America, as well as North Africa.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endemický pemphigus foliaceus"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fogo selvagem"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636955"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"636950","display":"Glaucomatocyclitic crisis disease","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Onemocnění s glaukomatocyklitickými krizemi"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Posner-Schlossman syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636950"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641613","display":"Endogenous Cushing syndrome","definition":"A rare group of endocrine disorders caused by prolonged and high exposure levels to glucocorticoids of endogenous (adrenal cortex production) origin. Typical clinical features are truncal and facial obesity, hypercatabolic syndrome (thinned skin, purple striae, ecchymosis, bruising with no obvious trauma, proximal muscle weakness with amyotrophy, osteoporosis) and, in children, weight gain with decreasing growth velocity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Endogenní Cushingův syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Endogenous CS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641613"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"641829","display":"Neonatal compartment syndrome","definition":"A rare non-inflammatory vasculopathy characterized by intracompartmental pressure typically in a distal upper extremity due to intrauterine ischemia and external compression. Affected limb presents significant swelling and sentinel skin changes (desquamation, blister/bullae formation, and skin necrosis). It can lead to long-term sequelae including Volkmann contracture, limb length discrepancies,bone growth abnormalities and nerve lesions. Neurologic involvement, ranging from sensory and motor nerve palsies to complete hand paralysis, may persist.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Novorozenecký kompartment syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CVIC"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital Volkmann ischemic contracture syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NCS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neonatal Volkmann ischemic contracture syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Syndrome de Volkmann congénital"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641829"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641496","display":"Childhood-onset schizophrenia","definition":"A rare neurologic disease with psychiatric involvement characterized by prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Schizofrenie s nástupem v dětství"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"COS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"VEOS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Very early-onset schizophrenia"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641496"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641390","display":"PsAPASH syndrome","definition":"A rare autoinflammatory syndrome characterized by the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PsAPASH syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641396","display":"OBSOLETE: Central nervous system tuberculosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Tuberkulóza centrálního nervového systému"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: CNS tuberculosis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641396"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"3389"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"730702"}]},{"code":"641380","display":"PAPASH syndrome","definition":"A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PAPASH syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641385","display":"PASS syndrome","definition":"A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"PASS syndrom"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641375","display":"B-lymphoblastic leukemia/lymphoma with t(17;19)","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"B-lymfoblastická leukemie/lymfom s t(17;19)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"99860"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"641368","display":"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency","definition":"A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní hyper-IgE syndrom způsobený deficitem ZNF341"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"AR-HIES due to ZNF341 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive HIES due to ZNF341 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641372","display":"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"B-lymfoblastická leukemie/lymfom s t(7;9)(q11.2;p13.2)"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"99860"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"641353","display":"Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome","definition":"A rare genetic neurological syndrome of variable severity characterized by progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující neurodegeneraci, progresivní spasticitu, mentální retardaci a léze bílé hmoty projevující se v dětském věku"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HPDL-related Leigh-like encephalopathy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641361","display":"Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome","definition":"A rare genetic neurological syndrome characterized by cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující neurovývojové opoždění, hypotonii, cerebelární ataxii a poruchy srdečního vedení"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"641343","display":"Imprinting disorders","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Poruchy imprintingu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641343"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"641350","display":"Immunotherapy induced hypophysitis","definition":"A rare acquired pituitary hormone deficieny characterized by inflammation of the pituitary gland secondary to immunotherapy for cancers treatments (such as monoclonal antibodies against cytotoxic T lymphocytes antigen, programmed cell death protein-1, and programmed cell death ligand molecules). Major clinical features include headache, fatigue, adrenal insufficiency and hypothyroidism. Patients may also have nausea and vomiting associated to the headache as well as dizziness and hot flashes. Enlargement of the pituitary gland is present in the brain imaging.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hypofyzitida vyvolaná imunoterapií"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641350"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642976","display":"Perrault syndrome type 2","definition":"A form of Perrault syndrome characterized by sensorineural, generally bilateral, prelingual, progressive and sometimes asymmetric hearing loss, primary ovarian dysgenesis in females and neurological features of variable severity including cerebellar dysfunction/athrophy with ataxia, intellectual disability, neuropathy and behavioral symptoms. Additional clinical features may involve developmental delay, muscular and renal manifestations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perraultův syndrom, typ 2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2855"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"642965","display":"Autosomal recessive ataxia due to PEX2 deficiency","definition":"A rare genetic, peroxisomal disease characterized by childhood or adolescence onset slowly progressing cerebellar ataxia and severe axonal sensorimotor polyneuropathy due to PEX 2 deficieny. Patients develop marked brain atrophy including cerebellum, cerebellar peduncles, and bulbar olives. Gait disturbance, moderate truncal ataxia, moderate cerebellar tremor, mild dysarthria, areflexia, strabismus, hypoacusia and nystagmus were also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní ataxie způsobená deficitem PEX2"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mild peroxisomal disorder due to PEX2 deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642954","display":"Autosomal recessive ataxia due to PEX16 deficiency","definition":"A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně recesivní ataxie způsobená deficitem PEX16"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Mild peroxisomal disorder due to PEX16 deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642945","display":"Perrault syndrome type 1","definition":"A form of Perrault syndrome characterized by sensorineural hearing loss and ovarian dysgenesis in females. No neurological features are observed. Hearing loss is sensorineural, generally bilateral, prelingual, progressive, sometimes asymmetric and manifests with variable severity (mild to profound). Majority of the cases have primary amenorrhea.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Perraultův syndrom, typ 1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"XX gonadal dysgenesis-deafness syndrome-without neurological manifestations"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"2855"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"642788","display":"Cushing syndrome due to cortisol-producing adrenocortical adenoma","definition":"A form of adrenal Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cushingův syndrom způsobený adenomem kůry nadledvin produkujícím kortizol"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CS due to cortisol-producing adrenocortical adenoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642788"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642763","display":"Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occuring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autozomálně dominantní syndrom způsobený mutací H1-4 zahrnující mentální retardaci, kraniofaciální dysmorfii, makrocefalii a hypotonii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"H1-4-related neurodevelopmental disorder"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rahman syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642747","display":"PUM1-related cerebellar ataxia","definition":"A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Cerebelární ataxie asociovaná s PUM1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adult-onset SCA47"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Adult-onset spinocerebellar ataxia type 47"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642737","display":"OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Spondyloepimetafyzární dysplázie se závažnou formou malého vzrůstu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642737"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"370015"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}},{"code":"referred-to","valueCode":"370015"}]},{"code":"642691","display":"Fragile X-associated primary ovarian insufficiency","definition":"A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in <i>FMR1</i> gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární ovariální insuficience spojená se syndromem fragilního X"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FXPOI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fragile X-associated POF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fragile X-associated POI"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fragile X-associated premature ovarian failure"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"POF associated with fragile X premutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"POI associated with fragile X premutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Premature ovarian failure associated with fragile X premutation"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Primary ovarian insufficiency associated with fragile X premutation"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642675","display":"CHD8 overgrowth syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions and seizures.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom nadměrného vzrůstu CHD8"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chromodomain helicase DNA binding protein 8 overgrowth syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642671","display":"Familial hyperaldosteronism type IV","definition":"A rare familial hyperaldosteronism characterized by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalemia. Developmental delay, learning disabilities, behavioral abnormalities, and attention deficit disorder are observed in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Familiární hyperaldosteronismus, typ IV"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FH4"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642099","display":"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type","definition":"A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie s kloubní laxicitou, Beightonův typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMD-JL1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMDJL1"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepimetaphyseal dysplasia with joint laxity type 1"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642085","display":"EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity","definition":"A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Spondyloepimetafyzární dysplázie s kloubní laxicitou, typ EXOC6B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"EXOC6B-SEMD-JL"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMD-JL3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SEMDJL3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepimetaphyseal dysplasia with joint laxity type 3"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642071","display":"Primary pulmonary vein stenosis","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Primární stenóza plicní žíly"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital pulmonary vein stenosis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PPVS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"642013","display":"OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"NEAKTUÁLNÍ: Cushingův syndrom nadledvin způsobený izolovaným benigním nádorem kůry nadledvin"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642013"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"inactive-obsolete","display":"Inactive: Obsolete"}},{"code":"inactive","valueBoolean":true},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}},{"code":"referred-to","valueCode":"647758"}]},{"code":"632603","display":"Mesomelic dysplasia-digital anomalies-intellectual disability syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující podkovovitou ledvinu, Nievergeltovu/Savarirayanovu mezomelickou dysplázii, epilepsii, hypertrichózu, mentální retardaci a postižení plic"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633021","display":"SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome","definition":"A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by profound global developmental delay, impaired intellectual development, absent speech, sensorineural hearing loss, and hypotonia (present at birth). Patients have poor overall growth with severe feeding difficulties associated with gastrointestinal anomalies (including gastroesophageal reflux, midgut malrotation). Secretory dysfunction (including tear, sweat, and saliva production) causing dry mouth and recurrent bronchial mucus plugging are commonly observed. Differing from other form of the syndrome, these patients are often present with mild and non specific dysmorphic features (narrow forehead, oblong face, low-set ears, wide mouth, mandibular prognathia) and have multiple malformations (gastrointestinal, brain, choanal).","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s SLC12A2 s autozomálně recesivní dědičností zahrnující novorozenecké opoždění vývoje, mentální retardaci, potíže s krmením a senzorineurální hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Kilquist syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"633014"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"633024","display":"SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome","definition":"A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s SLC12A2 s autozomálně dominantní dědičností zahrnující opoždění vývoje v dětství, mentální retardaci a senzorineurální hluchotu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Delpire-McNeill syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"633014"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"633004","display":"KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominant nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to <i>KDM3B</i> mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s KDM3B zahrnující mentální retardaci, obličejovou dysmorfii a malý vzrůst"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Diets-Jongmans Syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633014","display":"SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome","definition":"A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfuntion. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s SLC12A2 zahrnující senzorineurální hluchotu, opoždění vývoje a mentální retardaci"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633211","display":"Preaxial digit brachydactyly-webbed fingers","definition":"A rare dysostosis with brachydactyly characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Brachydaktylie preaxiálních prstů se syndaktylií"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Preaxial brachydactyly, PAX3 type"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633124","display":"Invasive scopulariopsis infection","definition":"A rare mycosis characterized by disseminated or localized deep tissue infections due to invasive scopulariopsis (that are commonly responsible for non-invasive infections) infection in both immunocompetent and immunosuppressed patients (mostly treated with high dose chemotherapy and/or received a stem cell transplantation). Clinical features may include endocarditis, brain abscess, cutaneous infections, pulmonary infections, endophthalmitis, invasive sinusitis and peritonitis that are often life threatening.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Invazivní infekce druhem Scopulariopsis"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633124"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633035","display":"Intellectual disability-early-onset cataract-microcephaly syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující mentální retardaci, kataraktu s časným nástupem a mikrocefalii"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Baralle-Macken syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633028","display":"CPE-related Prader-Willi-like syndrome","definition":"A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom související s CPE podobný Praderovu-Williho syndromu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"BDV syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Blakemore-Durmaz-Vasileiou syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633099","display":"PAICS deficiency","definition":"A rare disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Deficit PAICS"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Phosphoribosylaminoimidazole carboxylase deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"633076","display":"Split cord malformation, composite type","definition":"A rare intermediate form of split cord malformation characterized by both hemichords encapsulated in a single dural sac with presence of an incomplete ventral or dorsal bony spur.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Malformace s rozštěpem míchy, složený typ"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Split cord malformation type 1.5"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Split cord malformation, intermediate type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Split cord malformation, mixed type"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21415","display":"Morphological anomaly"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"615938","display":"Spastic paraparesis-cataracts-speech delay syndrome","definition":"A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující spastickou paraparézu, kataraktu a opoždění řeči"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fatty acyl-CoA reductase 1 superactivity"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"615943","display":"Granuloma faciale","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Granuloma faciale"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Facial granuloma of Lever"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Granuloma of Lever"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615943"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"615986","display":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci způsobený bialelickými delecemi v genovém klastru ATAD3"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Lethal 1p36.33 deletion syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"615954"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"615970","display":"Chronic intervillositis of unknown etiology","definition":"A rare disorder related to pregnancy characterized by a placental inflammatory process with clusters of histiocytes and associated fibrin in intervillous spaces, resulting in adverse pregnancy outcomes including intrauterine growth restriction, preterm birth, and pregnancy loss. Higher grading according to the proportion of involved intervillous space has been associated with poorer outcomes. There is a significant risk of recurrence in subsequent pregnancies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronická intervilozitida neznámé etiologie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"CIUE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615970"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"615983","display":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci způsobený bodovou mutací"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"615954"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21443","display":"Etiological subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"615954","display":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the <i>ATAD3</i> gene cluster (<i>ATAD3A</i>, <i>ATAD3B</i> and <i>ATAD3C</i>) or by point mutations in the <i>ATAD3A</i> gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"615964","display":"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate","definition":"A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Akutní reverzibilní leukoencefalopatie se zvýšenou hladinou alfa-ketoglutarátu v moči"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute reversible leukoencephalopathy due to SLC13A3 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617449","display":"Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome","definition":"A rare genetic disorder involving multiple structures of the eye, characterized by the combination of congenital aphakia and panocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posteriour segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující vrozenou afakii, hypoplázii duhovky, mikroftalmii a mikrokorneu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617449"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617408","display":"Classic eosinophilic pustular folliculitis","definition":"A rare skin disease characterized by non-infectious eosinophilic infiltration of the hair follicles. Patients present with chronically recurrent crops of itchy follicular papulopustules with peripheral extension and central clearing. Small papules tend to enlarge and coalesce into large plaques. The lesions favor the face and trunk, although the extremities can also be involved. Laboratory analysis may show peripheral leukocytosis and eosinophilia, while, clinically, systemic involvement is not evident.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Klasická eozinofilní pustulózní folikulitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Classic EPF"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Ofuji disease"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617408"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617440","display":"Painful legs and moving toes syndrome","definition":"A rare neurologic (adult-onset) movement disorder characterized by persistent pain (unilateral or bilateral) in the feet or legs (most commonly the hemi-lower limbs) and persistant twisting, non-rhythmic, involuntary movements of one or more toes. Chronic \"deep aching pulling pain\" includes tingling, numbness, aching, dullness, cramp, shooting, sharp, burning, and prickling.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom bolestivých nohou a pohyblivých prstů na nohou"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PLMT syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617440"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21422","display":"Clinical syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617307","display":"Rare disorder related to monochorionic twin pregnancy","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná porucha související s monochoriálním dvojčetným těhotenstvím"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617307"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"617304","display":"Amniotic fluid embolism","definition":"A rare obstetric condition characterized by entry of amniotic fluid and fetal elements into the maternal circulation, causing an emergency situation with sudden cardiovascular collapse, disseminated intravascular coagulation, and high lethality. In most instances it occurs during labor, cesarean delivery, or within 30 minutes postpartum. Patients present acute dyspnea and cough, acute hypotension, encephalopathy with altered mental status and seizures, hypoxia and cyanosis, coagulopathy, severe hemorrhage, uterine atony, acute pulmonary hypertension, and cardiac arrest.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Embolie plodovou vodou"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617304"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617313","display":"Rare disorder due to inadequate sharing of the placenta","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná porucha způsobená nedostatečným sdílením placenty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617313"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"617310","display":"Rare disorder due to unbalanced inter-twin blood transfusion","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácná porucha způsobená nevyváženou transfuzí krve mezi dvojčaty"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617310"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"36561","display":"Category"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"617294","display":"Twin anemia-polycythemia sequence","definition":"A rare disorder related to monochorionic twin pregnancy characterized by unbalanced inter-twin blood transfusion with subsequent anemia in the donor and polycythemia in the recipient twin. Amniotic fluid abnormalities are absent. Doppler measurement of middle cerebral artery peak systolic velocities reveals significantly discordant velocities. The condition can occur spontaneously or complicate incomplete fetoscopic laser surgery.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekvence anémie-polycytémie u dvojčat (TAPS)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TAPS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"616874","display":"Rare disorder without a determined diagnosis after full investigation","definition":"A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Vzácné onemocnění bez stanovené diagnózy po úplném vyšetření"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Fully investigated rare disorder without a determined diagnosis"},{"language":"cs","use":{"system":"http://snomed.info/sct/11000279109","code":"900000000000013009","display":"synonymum"},"value":"Plně vyšetřené vzácné onemocnění bez stanovené diagnózy"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616874"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617301","display":"Selective intrauterine growth restriction","definition":"A rare disorder related to monochorionic twin pregnancy characterized by unequal placental sharing leading to growth restriction in one twin according to the following criteria: estimated fetal weight (EFW) of one twin below the 3rd percentile as a solitary parameter, or fulfilment of at least two out of four contributory parameters (EFW of one twin below the 10th percentile, abdominal circumference of one twin below the 10th percentile, EFW discordance of &#8805; 25%, umbilical artery pulsatility index of the smaller twin above the 95th percentile). Early severe forms are associated with a significant risk of intrauterine demise or neurological adverse outcome for both twins.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Selektivní nitroděložní růstová restrikce"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Selective fetal growth restriction"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"sFGR"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"sIUGR"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617301"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617297","display":"Twin-reversed arterial perfusion sequence","definition":"A rare disorder related to monochorionic twin pregnancy characterized by complete or partial absence of cardiac development in one twin (''acardiac twin'') and blood supply of both circulations by the morphologically normal co-twin (''pump twin'') via an arterioarterial anastomosis. In most cases, the acardiac twin has well developed legs and pelvis but no cephalic pole, thoracic organs, and upper extremities. The condition is associated with a high risk of perinatal death of the pump twin due to a combination of high-output cardiac failure and polyhydramnios-related pre-term birth. Hypoxia and intrauterine growth restriction are also seen in the pump twin.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Sekvence reverzní arteriální perfuze u dvojčat (TRAP)"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"TRAP"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617297"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"621758","display":"Fibrosis-neurodegeneration-cerebral angiomatosis syndrome","definition":"A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující fibrózu, neurodegeneraci a mozkovou angiomatózu"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FINCA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"620371","display":"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation","definition":"A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfuntion may not be evident in the patients.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Gitelman-like tubulopatie ledvin způsobená mutací mitochondriální DNA"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Gitelman-like kidney tubulopathy due to mtDNA mutation"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"620368","display":"EGF-related primary hypomagnesemia with intellectual disability","definition":"A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"EGF asociovaná primární hypomagnezémie s intelektovou nedostatečností"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"620363","display":"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome","definition":"A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to <i>CNNM2</i> mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Syndrom zahrnující primární hypomagnezémii, generalizované záchvaty, intelektovou nedostatečnost a obezitu"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"620217","display":"Bartter syndrome type 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Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoimunitní limbická encefalitida"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"ALE"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623615"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"623626","display":"Paraneoplastic cerebellar degeneration","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Paraneoplastická cerebelární degenerace"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"PCD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Paraneoplastic cerebellar ataxia"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Rapidely progressive cerebellar syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Subacute cerebellar degeneration"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"623638","display":"Immune-mediated cerebellar ataxia","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoimunitní cerebelární ataxie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Autoimmune cerebellitis"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"IMCA"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623638"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Not applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21436","display":"Clinical group"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36540","display":"Group of disorders"}}]},{"code":"623695","display":"MIR140-related spondyloepiphyseal dysplasia","definition":"A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"MIR140-asociovaná spondyloepifyzární dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MIR140-related SED"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"622925","display":"X-linked severe syndromic thoracic aortic aneurysm and dissection","definition":"A rare genetic systemic syndrome characterized by early-onset aortic aneurysm (involving the aortic root/ more distal ascending aorta) and dissection. Mild mitral or aortic insufficiency may also be present. Majority of the patients present with variable facial dysmorphism including frontal bossing, hypertelorism, downslanting palpebral fissures, proptosis and malar hypoplasia. Additional clinical features may include joint hypermobility, contractures, and mild skeletal dysplasia.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"X-vázaný syndrom těžkého aneuryzmatu a disekce hrudní aorty"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Meester-Loeys syndrome"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"X-linked severe syndromic TAAD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21401","display":"Malformation syndrome"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"622934","display":"SBDS-related severe neonatal spondylometaphyseal dysplasia","definition":"A rare spondylodysplastic dysplasia characterized by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"SBDS-asociovaná těžká neonatální spondylometafyzeální dysplázie"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SBDS-related severe neonatal SMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Spondylometaphyseal dysplasia, Sedaghatian-like 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syndrome"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622099"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"622720","display":"Genetic autoinflammatory syndrome with skin involvement","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Genetický autoinflamatorní syndrom s postižením 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interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Chronický neuroviscerální deficit kyselé sfingomyelinázy"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Chronic neurovisceral ASMD"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"NPD-A/B"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Niemann-Pick disease type A/B"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617910","display":"Conjunctival malignant melanoma","definition":"A rare eye tumor characterized by a flat to nodular conjunctival mass with variable pigmentation. It can arise in any part of the conjunctiva but most often presents on the bulbar surface, near the limbus. Invasion of corneal tissue, eyelid margin, sclera or orbit may occur in advanced tumors. Metastatic spread most commonly involves regional lymph nodes or the lung, liver, and brain. Essential diagnostic criteria are stromal invasion and severe cytological and architectural atypia exceeding those expected in a naevus. Desirable criteria are demonstration of melanocytic markers by immunohistochemistry, pagetoid growth, mitotic activity, invasion into cornea or skin, ulceration, and tumor necrosis.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Maligní melanom spojivky"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Conjunctival melanoma"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617910"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617916","display":"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia","definition":"A rare pulmonary neuroendocrine tumor, most often presenting in women over 50 years and no smokers, characterized by long-lasting cough (>10 years), and less frequently by dispnea or wheezing. A proportion of patients are asymptomatic, the disease being an incidental finding during routine check-ups. Diffuse pulmonary nodules and mosaic attenuation can be detected by CT-scan however only histopathology can confirm the diagnosis detecting a multifocal hyperplasia of pulmonary neuroendocrine cells (carcinoid tumorlets). Ventilatory dysfunction can be obstructive and less often restrictive, mixed or non-specific. Symptoms can progress slowly but sometimes lead to respiratory failure. It is considered as a precursor for pulmonary carcinoid tumor.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Difuzní idiopatická hyperplázie plicních neuroendokrinních buněk"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617916"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617919","display":"F12-associated cold autoinflammatory syndrome","definition":"A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor&nbsp;(12&nbsp;(F-12)&nbsp;gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoinflamatorní syndrom spojený s chladem a genem F12"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"FACAS"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"617930","display":"Hemophilia B Leyden","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Hemofilie B Leyden"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"F9 deficiency, Leyden type"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Factor IX deficiency, Leyden type"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"parent","valueCode":"98879"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21450","display":"Clinical subtype"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36554","display":"Subtype of disorder"}}]},{"code":"619941","display":"Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency","definition":"A rare primary immunodeficieny due to a defect in innate immunity characterized by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with <i>Pseudomonas</i> infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Imunodeficit způsobený poruchou fagocytózy a migrace neutrofilů"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital neutropenia-CID due to MKL1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"MKL1-related neutrophil motility defect"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"619367","display":"SAMD9L-associated autoinflammatory syndrome","definition":"A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.","designation":[{"language":"cs","use":{"system":"http://terminology.hl7.org/CodeSystem/designation-usage","code":"display"},"value":"Autoinflamatorní syndrom spojený se SAMD9L"},{"language":"en","use":{"system":"http://snomed.info/sct","code":"900000000000013009","display":"Synonym"},"value":"SAMD9L-SAAD"}],"property":[{"code":"expertLink","valueString":"http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367"},{"code":"totalStatus","valueCoding":{"system":"http://www.orpha.net/total-status","version":"2026","code":"active","display":"Active"}},{"code":"aggregationLevel","valueCode":"Applicable"},{"code":"disorderType","valueCoding":{"system":"http://www.orpha.net/disorder-type","version":"2026","code":"21394","display":"Disease"}},{"code":"classificationLevel","valueCoding":{"system":"http://www.orpha.net/classification-level","version":"2026","code":"36547","display":"Disorder"}}]},{"code":"619953","display":"Familial hyperinflammatory lymphoproliferative immunodeficiency","definition":"A rare autoinflammatory syndrome with immune deficiency characterized by recurrent infections (bacterial and viral) due to <i>NCKAP1L</i> mutations. 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#259

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#260

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#261

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#263

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
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#264

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
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#265

POST https://tx.fhir.org/r4/ValueSet/$expand HTTP/1.1
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#266

POST https://tx.fhir.org/r4/$cache-control?mode=end HTTP/1.1
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#267

POST https://tx.hl7.cz/r4/$cache-control?mode=end HTTP/1.1
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