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This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v2.1.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: ClinVar Value Set - TTL Representation

Active as of 2023-03-21

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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:id [ fhir:v "mcode-clinvar-vs"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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:url [ fhir:v "http://hl7.org/fhir/us/mcode/ValueSet/mcode-clinvar-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "2.1.0"] ; # 
  fhir:name [ fhir:v "ClinVarVS"] ; # 
  fhir:title [ fhir:v "ClinVar Value Set"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2023-03-21T04:54:56+11:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International Clinical Interoperability Council"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International Clinical Interoperability Council" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/cic" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "ciclist@lists.HL7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Value set of human genomic 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:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ] ;
fhir:code [ fhir:v "US" ] ;
fhir:display [ fhir:v "United States of America" ]     ] )
  ] ) ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ]     ] )
  ] . #