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: GenomOncology Variant Significance - TTL Representation

Active as of 2026-10-08

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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 -------------------------------------------------------------------

<http://hl7.org/fhir/CodeSystem/variant-significance-codesystem> a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "variant-significance-codesystem"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem variant-significance-codesystem</b></p><a name=\"variant-significance-codesystem\"> </a><a name=\"hcvariant-significance-codesystem\"> </a><p>This  code system <code>http://fhir.genomoncology.io/CodeSystem/variant-significance-codesystem</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">oncogenic<a name=\"variant-significance-codesystem-oncogenic\"> </a></td><td>Oncogenic</td></tr><tr><td style=\"white-space:nowrap\">likely_oncogenic<a name=\"variant-significance-codesystem-likely_oncogenic\"> </a></td><td>Likely Oncogenic</td></tr><tr><td style=\"white-space:nowrap\">vus<a name=\"variant-significance-codesystem-vus\"> </a></td><td>VUS</td></tr><tr><td style=\"white-space:nowrap\">likely_benign<a name=\"variant-significance-codesystem-likely_benign\"> </a></td><td>Likely Benign</td></tr><tr><td style=\"white-space:nowrap\">benign<a name=\"variant-significance-codesystem-benign\"> </a></td><td>Benign</td></tr></table></div>"
  ] ;
  fhir:CodeSystem.url [ fhir:value "http://fhir.genomoncology.io/CodeSystem/variant-significance-codesystem"] ;
  fhir:CodeSystem.version [ fhir:value "0.2.0"] ;
  fhir:CodeSystem.name [ fhir:value "VariantSignificance"] ;
  fhir:CodeSystem.title [ fhir:value "GenomOncology Variant Significance"] ;
  fhir:CodeSystem.status [ fhir:value "active"] ;
  fhir:CodeSystem.date [ fhir:value "2026-10-08T14:29:02+00:00"^^xsd:dateTime] ;
  fhir:CodeSystem.publisher [ fhir:value "GenomOncology"] ;
  fhir:CodeSystem.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "GenomOncology" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "http://genomoncology.com" ]
     ]
  ] ;
  fhir:CodeSystem.description [ fhir:value "Variant tiers tied to implications"] ;
  fhir:CodeSystem.content [ fhir:value "complete"] ;
  fhir:CodeSystem.count [ fhir:value "5"^^xsd:nonNegativeInteger] ;
  fhir:CodeSystem.concept [
     fhir:index 0 ;
     fhir:CodeSystem.concept.code [ fhir:value "oncogenic" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Oncogenic" ]
  ], [
     fhir:index 1 ;
     fhir:CodeSystem.concept.code [ fhir:value "likely_oncogenic" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Likely Oncogenic" ]
  ], [
     fhir:index 2 ;
     fhir:CodeSystem.concept.code [ fhir:value "vus" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "VUS" ]
  ], [
     fhir:index 3 ;
     fhir:CodeSystem.concept.code [ fhir:value "likely_benign" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Likely Benign" ]
  ], [
     fhir:index 4 ;
     fhir:CodeSystem.concept.code [ fhir:value "benign" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Benign" ]
  ] .

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

<http://hl7.org/fhir/CodeSystem/variant-significance-codesystem.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/CodeSystem/variant-significance-codesystem.ttl> .