This page is part of the PanCareSurPass Project HL7 FHIR Implementation Guide (v0.1.0: QA Preview) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
: Hereditary Predispositions (ICD10) - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:ValueSet;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "vs-icd10-predisposition-eu-pcsp"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "extensions" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-data-absent-reason.html\"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-data-absent-reason.html#data-absent-reason-not-applicable\">not-applicable</a></td><td>Not Applicable</td><td>There is no proper value for this element (e.g. last menstrual period for a male).</td></tr></table></li><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-icd10.html\"><code>http://hl7.org/fhir/sid/icd-10</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>D61.0</td><td>Constitutional aplastic anemia</td></tr><tr><td>D82.0</td><td>Wiskott-Aldrich syndrome</td></tr><tr><td>D82.3</td><td>Immunodeficiency following hereditary defective response to Epstein-Barr virus</td></tr><tr><td>E34.8</td><td>Other specified endocrine disorders</td></tr><tr><td>G11.3</td><td>Cerebellar ataxia with defective DNA repair</td></tr><tr><td>K86.1</td><td>Other chronic pancreatitis</td></tr><tr><td>L72.8</td><td>Other follicular cysts of the skin and subcutaneous tissue</td></tr><tr><td>Q78.6</td><td>Multiple congenital exostoses</td></tr><tr><td>Q82.1</td><td>Xeroderma pigmentosum</td></tr><tr><td>Q82.2</td><td>Congenital cutaneous mastocytosis</td></tr><tr><td>Q82.8</td><td>Other specified congenital malformations of skin</td></tr><tr><td>Q85.0</td><td>Neurofibromatosis (nonmalignant)</td></tr><tr><td>Q85.1</td><td>Tuberous sclerosis</td></tr><tr><td>Q85.8</td><td>Other phakomatoses, not elsewhere classified</td></tr><tr><td>Q87.3</td><td>Congenital malformation syndromes involving early overgrowth</td></tr><tr><td>Q87.8</td><td>Other specified congenital malformation syndromes, not elsewhere classified</td></tr></table></li></ul></div>"
]; #
fhir:ValueSet.url [ fhir:value "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-icd10-predisposition-eu-pcsp"]; #
fhir:ValueSet.version [ fhir:value "0.1.0"]; #
fhir:ValueSet.name [ fhir:value "ICD10HereditaryPredisposition"]; #
fhir:ValueSet.title [ fhir:value "Hereditary Predispositions (ICD10)"]; #
fhir:ValueSet.status [ fhir:value "active"]; #
fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean]; #
fhir:ValueSet.date [ fhir:value "2023-01-26T10:15:52+01:00"^^xsd:dateTime]; #
fhir:ValueSet.publisher [ fhir:value "PanCareSurPass Project"]; #
fhir:ValueSet.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "PanCareSurPass Project" ];
fhir:ContactDetail.telecom [
fhir:index 0;
fhir:ContactPoint.system [ fhir:value "url" ];
fhir:ContactPoint.value [ fhir:value "https://www.pancaresurpass.eu/" ] ]
], [
fhir:index 1;
fhir:ContactDetail.name [ fhir:value "PanCareSurPass Project" ];
fhir:ContactDetail.telecom [
fhir:index 0;
fhir:ContactPoint.system [ fhir:value "url" ];
fhir:ContactPoint.value [ fhir:value "https://www.pancaresurpass.eu/" ] ]
]; #
fhir:ValueSet.description [ fhir:value "Hereditary Predispositions (ICD10)"]; #
fhir:ValueSet.jurisdiction [
fhir:index 0;
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ];
fhir:Coding.code [ fhir:value "150" ];
fhir:Coding.display [ fhir:value "Europe" ] ]
]; #
fhir:ValueSet.compose [
fhir:ValueSet.compose.include [
fhir:index 0;
fhir:ValueSet.compose.include.system [ fhir:value "http://terminology.hl7.org/CodeSystem/data-absent-reason" ];
fhir:ValueSet.compose.include.concept [
fhir:index 0;
fhir:ValueSet.compose.include.concept.code [ fhir:value "not-applicable" ] ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.system [ fhir:value "http://hl7.org/fhir/sid/icd-10" ];
fhir:ValueSet.compose.include.concept [
fhir:index 0;
fhir:ValueSet.compose.include.concept.code [ fhir:value "D61.0" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Constitutional aplastic anemia" ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.concept.code [ fhir:value "D82.0" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Wiskott-Aldrich syndrome" ] ], [
fhir:index 2;
fhir:ValueSet.compose.include.concept.code [ fhir:value "D82.3" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Immunodeficiency following hereditary defective response to Epstein-Barr virus" ] ], [
fhir:index 3;
fhir:ValueSet.compose.include.concept.code [ fhir:value "E34.8" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Other specified endocrine disorders" ] ], [
fhir:index 4;
fhir:ValueSet.compose.include.concept.code [ fhir:value "G11.3" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Cerebellar ataxia with defective DNA repair" ] ], [
fhir:index 5;
fhir:ValueSet.compose.include.concept.code [ fhir:value "K86.1" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Other chronic pancreatitis" ] ], [
fhir:index 6;
fhir:ValueSet.compose.include.concept.code [ fhir:value "L72.8" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Other follicular cysts of the skin and subcutaneous tissue" ] ], [
fhir:index 7;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q78.6" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Multiple congenital exostoses" ] ], [
fhir:index 8;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q82.1" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Xeroderma pigmentosum" ] ], [
fhir:index 9;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q82.2" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Congenital cutaneous mastocytosis" ] ], [
fhir:index 10;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q82.8" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Other specified congenital malformations of skin" ] ], [
fhir:index 11;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q85.0" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Neurofibromatosis (nonmalignant)" ] ], [
fhir:index 12;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q85.1" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Tuberous sclerosis" ] ], [
fhir:index 13;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q85.8" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Other phakomatoses, not elsewhere classified" ] ], [
fhir:index 14;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q87.3" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Congenital malformation syndromes involving early overgrowth" ] ], [
fhir:index 15;
fhir:ValueSet.compose.include.concept.code [ fhir:value "Q87.8" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Other specified congenital malformation syndromes, not elsewhere classified" ] ] ]
]. #
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
The PanCareSurPass Research and Innovation Action has received funding from the European Union's Horizon 2020
