This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

ClinVar Value Set - TTL Representation

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Raw ttl

Source view

@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 "mcode-clinvar-vs"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>ClinVar Value Set</h2><div><p>Value set of human genetic variants, drawn from <a href=\"https://www.ncbi.nlm.nih.gov/clinvar/\">ClinVar</a>. The codes in this value set refer to the ClinVar Variation ID, or the identifier for the variant or set of variants that were interpreted. <a href=\"https://www.ncbi.nlm.nih.gov/projects/clinvar/ClinVarDataDictionary.pdf\">Source: NCBI ClinVar Data Dictionary</a></p>\n</div><ul><li>Include all codes defined in <a href=\"http://www.ncbi.nlm.nih.gov/clinvar\"><code>http://www.ncbi.nlm.nih.gov/clinvar</code></a></li></ul></div>"
  ];
  fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/us/mcode/ValueSet/mcode-clinvar-vs"];
  fhir:ValueSet.version [ fhir:value "1.0.0"];
  fhir:ValueSet.name [ fhir:value "ClinVarVS"];
  fhir:ValueSet.title [ fhir:value "ClinVar Value Set"];
  fhir:ValueSet.status [ fhir:value "active"];
  fhir:ValueSet.date [ fhir:value "2020-03-18T15:32:10+00:00"^^xsd:dateTime];
  fhir:ValueSet.publisher [ fhir:value "HL7 International Clinical Interoperability Council"];
  fhir:ValueSet.contact [
     fhir:index 0;
     fhir:ContactDetail.name [ fhir:value "HL7 International Clinical Interoperability Council" ];
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/cic" ]     ], [
       fhir:index 1;
       fhir:ContactPoint.system [ fhir:value "email" ];
       fhir:ContactPoint.value [ fhir:value "ciclist@lists.HL7.org" ]     ]
  ];
  fhir:ValueSet.description [ fhir:value "Value set of human genetic variants, drawn from [ClinVar](https://www.ncbi.nlm.nih.gov/clinvar/). The codes in this value set refer to the ClinVar Variation ID, or the identifier for the variant or set of variants that were interpreted. [Source: NCBI ClinVar Data Dictionary](https://www.ncbi.nlm.nih.gov/projects/clinvar/ClinVarDataDictionary.pdf)"];
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0;
       fhir:ValueSet.compose.include.system [ fhir:value "http://www.ncbi.nlm.nih.gov/clinvar" ]     ]
  ].

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.