PanCareSurPass Project HL7 FHIR Implementation Guide
1.0.0 - release 150

PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 1.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/pcsp/ and changes regularly. See the Directory of published versions

## : Hereditary Predispositions (ICD10) - TTL Representation

Active as of 2025-10-16

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @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:id [ fhir:v "vs-icd10-predisposition-eu-pcsp"] ; #
      fhir:text [
    fhir:status [ fhir:v "extensions" ] ;
    fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet vs-icd10-predisposition-eu-pcsp</b></p><a name=\"vs-icd10-predisposition-eu-pcsp\"> </a><a name=\"hcvs-icd10-predisposition-eu-pcsp\"> </a><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/6.5.0/CodeSystem-data-absent-reason.html\"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</code></a><span title=\"Version is not explicitly stated, which means it is fixed to 1.0.0, the version found through the package references\"> version ?1.0.0</span><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/6.5.0/CodeSystem-data-absent-reason.html#data-absent-reason-not-applicable\">not-applicable</a></td><td style=\"color: #cccccc\">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/6.5.0/CodeSystem-icd10.html\"><code>http://hl7.org/fhir/sid/icd-10</code></a><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><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>"^^rdf:XMLLiteral
      ] ; #
      fhir:url [ fhir:v "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-icd10-predisposition-eu-pcsp"^^xsd:anyURI] ; #
      fhir:version [ fhir:v "1.0.0"] ; #
      fhir:name [ fhir:v "ICD10HereditaryPredisposition"] ; #
      fhir:title [ fhir:v "Hereditary Predispositions (ICD10)"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v false] ; #
      fhir:date [ fhir:v "2025-10-16T12:02:24+00:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "PanCareSurPass Project"] ; #
      fhir:contact ( [
    fhir:name [ fhir:v "PanCareSurPass Project" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "https://www.pancaresurpass.eu/" ]     ] )
      ] [
    fhir:name [ fhir:v "PanCareSurPass Project" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "https://www.pancaresurpass.eu/" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "Hereditary Predispositions (ICD10)"] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "150" ] ;
    fhir:display [ fhir:v "Europe" ]     ] )
      ] ) ; #
      fhir:compose [
        ( fhir:include [
    fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/data-absent-reason"^^xsd:anyURI ] ;
          ( fhir:concept [
    fhir:code [ fhir:v "not-applicable" ]       ] )     ] [
    fhir:system [ fhir:v "http://hl7.org/fhir/sid/icd-10"^^xsd:anyURI ] ;
          ( fhir:concept [
    fhir:code [ fhir:v "D61.0" ] ;
    fhir:display [ fhir:v "Constitutional aplastic anemia" ]       ] [
    fhir:code [ fhir:v "D82.0" ] ;
    fhir:display [ fhir:v "Wiskott-Aldrich syndrome" ]       ] [
    fhir:code [ fhir:v "D82.3" ] ;
    fhir:display [ fhir:v "Immunodeficiency following hereditary defective response to Epstein-Barr virus" ]       ] [
    fhir:code [ fhir:v "E34.8" ] ;
    fhir:display [ fhir:v "Other specified endocrine disorders" ]       ] [
    fhir:code [ fhir:v "G11.3" ] ;
    fhir:display [ fhir:v "Cerebellar ataxia with defective DNA repair" ]       ] [
    fhir:code [ fhir:v "K86.1" ] ;
    fhir:display [ fhir:v "Other chronic pancreatitis" ]       ] [
    fhir:code [ fhir:v "L72.8" ] ;
    fhir:display [ fhir:v "Other follicular cysts of the skin and subcutaneous tissue" ]       ] [
    fhir:code [ fhir:v "Q78.6" ] ;
    fhir:display [ fhir:v "Multiple congenital exostoses" ]       ] [
    fhir:code [ fhir:v "Q82.1" ] ;
    fhir:display [ fhir:v "Xeroderma pigmentosum" ]       ] [
    fhir:code [ fhir:v "Q82.2" ] ;
    fhir:display [ fhir:v "Congenital cutaneous mastocytosis" ]       ] [
    fhir:code [ fhir:v "Q82.8" ] ;
    fhir:display [ fhir:v "Other specified congenital malformations of skin" ]       ] [
    fhir:code [ fhir:v "Q85.0" ] ;
    fhir:display [ fhir:v "Neurofibromatosis (nonmalignant)" ]       ] [
    fhir:code [ fhir:v "Q85.1" ] ;
    fhir:display [ fhir:v "Tuberous sclerosis" ]       ] [
    fhir:code [ fhir:v "Q85.8" ] ;
    fhir:display [ fhir:v "Other phakomatoses, not elsewhere classified" ]       ] [
    fhir:code [ fhir:v "Q87.3" ] ;
    fhir:display [ fhir:v "Congenital malformation syndromes involving early overgrowth" ]       ] [
    fhir:code [ fhir:v "Q87.8" ] ;
    fhir:display [ fhir:v "Other specified congenital malformation syndromes, not elsewhere classified" ]       ] )     ] )
      ] . #