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: GenomOncology Variant Codes - 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/observation-variant-implication-component-codesystem> a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "observation-variant-implication-component-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 observation-variant-implication-component-codesystem</b></p><a name=\"observation-variant-implication-component-codesystem\"> </a><a name=\"hcobservation-variant-implication-component-codesystem\"> </a><p>This case-sensitive code system <code>http://fhir.genomoncology.io/CodeSystem/observation-variant-implication-component-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\">variant_description<a name=\"observation-variant-implication-component-codesystem-variant_description\"> </a></td><td>Variant Description</td></tr><tr><td style=\"white-space:nowrap\">display<a name=\"observation-variant-implication-component-codesystem-display\"> </a></td><td>Display</td></tr><tr><td style=\"white-space:nowrap\">is_itd<a name=\"observation-variant-implication-component-codesystem-is_itd\"> </a></td><td>Is ITD</td></tr><tr><td style=\"white-space:nowrap\">cebpa_bzip_inframe<a name=\"observation-variant-implication-component-codesystem-cebpa_bzip_inframe\"> </a></td><td>CEBPA bZIP In-Frame</td></tr><tr><td style=\"white-space:nowrap\">mutation_type<a name=\"observation-variant-implication-component-codesystem-mutation_type\"> </a></td><td>Mutation Type</td></tr><tr><td style=\"white-space:nowrap\">tier<a name=\"observation-variant-implication-component-codesystem-tier\"> </a></td><td>Tier</td></tr><tr><td style=\"white-space:nowrap\">significance<a name=\"observation-variant-implication-component-codesystem-significance\"> </a></td><td>Significance</td></tr><tr><td style=\"white-space:nowrap\">potential_germline_findings<a name=\"observation-variant-implication-component-codesystem-potential_germline_findings\"> </a></td><td>Potential Germline Findings</td></tr></table></div>"
  ] ;
  fhir:CodeSystem.url [ fhir:value "http://fhir.genomoncology.io/CodeSystem/observation-variant-implication-component-codesystem"] ;
  fhir:CodeSystem.version [ fhir:value "0.2.0"] ;
  fhir:CodeSystem.name [ fhir:value "VariantComponents"] ;
  fhir:CodeSystem.title [ fhir:value "GenomOncology Variant Codes"] ;
  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 "These codes are currently 'TBD' codes. The CG WG plans to request formal LOINC codes to replace these codes as these concepts are validated."] ;
  fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean] ;
  fhir:CodeSystem.content [ fhir:value "complete"] ;
  fhir:CodeSystem.count [ fhir:value "8"^^xsd:nonNegativeInteger] ;
  fhir:CodeSystem.concept [
     fhir:index 0 ;
     fhir:CodeSystem.concept.code [ fhir:value "variant_description" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Variant Description" ]
  ], [
     fhir:index 1 ;
     fhir:CodeSystem.concept.code [ fhir:value "display" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Display" ]
  ], [
     fhir:index 2 ;
     fhir:CodeSystem.concept.code [ fhir:value "is_itd" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Is ITD" ]
  ], [
     fhir:index 3 ;
     fhir:CodeSystem.concept.code [ fhir:value "cebpa_bzip_inframe" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "CEBPA bZIP In-Frame" ]
  ], [
     fhir:index 4 ;
     fhir:CodeSystem.concept.code [ fhir:value "mutation_type" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Mutation Type" ]
  ], [
     fhir:index 5 ;
     fhir:CodeSystem.concept.code [ fhir:value "tier" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Tier" ]
  ], [
     fhir:index 6 ;
     fhir:CodeSystem.concept.code [ fhir:value "significance" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Significance" ]
  ], [
     fhir:index 7 ;
     fhir:CodeSystem.concept.code [ fhir:value "potential_germline_findings" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Potential Germline Findings" ]
  ] .

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

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