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: GenomOncology Mutation Types - 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/mutation-type-codesystem> a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "mutation-type-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 mutation-type-codesystem</b></p><a name=\"mutation-type-codesystem\"> </a><a name=\"hcmutation-type-codesystem\"> </a><p>This  code system <code>http://fhir.genomoncology.io/CodeSystem/mutation-type-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\">promoter<a name=\"mutation-type-codesystem-promoter\"> </a></td><td>Promoter</td></tr><tr><td style=\"white-space:nowrap\">start-codon<a name=\"mutation-type-codesystem-start-codon\"> </a></td><td>Start Codon</td></tr><tr><td style=\"white-space:nowrap\">splice-acceptor-site<a name=\"mutation-type-codesystem-splice-acceptor-site\"> </a></td><td>Splice Acceptor Site</td></tr><tr><td style=\"white-space:nowrap\">splice-donor-site<a name=\"mutation-type-codesystem-splice-donor-site\"> </a></td><td>Splice Donor Site</td></tr><tr><td style=\"white-space:nowrap\">intronic<a name=\"mutation-type-codesystem-intronic\"> </a></td><td>Intronic</td></tr><tr><td style=\"white-space:nowrap\">splice-region<a name=\"mutation-type-codesystem-splice-region\"> </a></td><td>Splice Region</td></tr><tr><td style=\"white-space:nowrap\">5'UTR<a name=\"mutation-type-codesystem-5.39UTR\"> </a></td><td>5' UTR</td></tr><tr><td style=\"white-space:nowrap\">3'UTR<a name=\"mutation-type-codesystem-3.39UTR\"> </a></td><td>3' UTR</td></tr><tr><td style=\"white-space:nowrap\">substitution-coding-silent<a name=\"mutation-type-codesystem-substitution-coding-silent\"> </a></td><td>Substitution - coding silent</td></tr><tr><td style=\"white-space:nowrap\">nonstop-extension<a name=\"mutation-type-codesystem-nonstop-extension\"> </a></td><td>Nonstop extension</td></tr><tr><td style=\"white-space:nowrap\">substitution-nonsense<a name=\"mutation-type-codesystem-substitution-nonsense\"> </a></td><td>Substitution - Nonsense</td></tr><tr><td style=\"white-space:nowrap\">substitution-missense<a name=\"mutation-type-codesystem-substitution-missense\"> </a></td><td>Substitution - Missense</td></tr><tr><td style=\"white-space:nowrap\">deletion-in-frame<a name=\"mutation-type-codesystem-deletion-in-frame\"> </a></td><td>Deletion - In frame</td></tr><tr><td style=\"white-space:nowrap\">insertion-in-frame<a name=\"mutation-type-codesystem-insertion-in-frame\"> </a></td><td>Insertion - In frame</td></tr><tr><td style=\"white-space:nowrap\">complex-deletion-inframe<a name=\"mutation-type-codesystem-complex-deletion-inframe\"> </a></td><td>Complex - deletion inframe</td></tr><tr><td style=\"white-space:nowrap\">complex-insertion-inframe<a name=\"mutation-type-codesystem-complex-insertion-inframe\"> </a></td><td>Complex - insertion inframe</td></tr><tr><td style=\"white-space:nowrap\">complex-compound-substitution<a name=\"mutation-type-codesystem-complex-compound-substitution\"> </a></td><td>Complex - compound substitution</td></tr><tr><td style=\"white-space:nowrap\">frameshift<a name=\"mutation-type-codesystem-frameshift\"> </a></td><td>Frameshift</td></tr><tr><td style=\"white-space:nowrap\">amplification<a name=\"mutation-type-codesystem-amplification\"> </a></td><td>Amplification</td></tr><tr><td style=\"white-space:nowrap\">loss<a name=\"mutation-type-codesystem-loss\"> </a></td><td>Loss</td></tr><tr><td style=\"white-space:nowrap\">fusion<a name=\"mutation-type-codesystem-fusion\"> </a></td><td>Fusion</td></tr><tr><td style=\"white-space:nowrap\">itd<a name=\"mutation-type-codesystem-itd\"> </a></td><td>ITD</td></tr><tr><td style=\"white-space:nowrap\">exon-skipping<a name=\"mutation-type-codesystem-exon-skipping\"> </a></td><td>Exon Skipping</td></tr></table></div>"
  ] ;
  fhir:CodeSystem.url [ fhir:value "http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem"] ;
  fhir:CodeSystem.version [ fhir:value "0.2.0"] ;
  fhir:CodeSystem.name [ fhir:value "MutationType"] ;
  fhir:CodeSystem.title [ fhir:value "GenomOncology Mutation Types"] ;
  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 "Mutation types for variants defined by GenomOncology."] ;
  fhir:CodeSystem.content [ fhir:value "complete"] ;
  fhir:CodeSystem.count [ fhir:value "23"^^xsd:nonNegativeInteger] ;
  fhir:CodeSystem.concept [
     fhir:index 0 ;
     fhir:CodeSystem.concept.code [ fhir:value "promoter" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Promoter" ]
  ], [
     fhir:index 1 ;
     fhir:CodeSystem.concept.code [ fhir:value "start-codon" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Start Codon" ]
  ], [
     fhir:index 2 ;
     fhir:CodeSystem.concept.code [ fhir:value "splice-acceptor-site" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Splice Acceptor Site" ]
  ], [
     fhir:index 3 ;
     fhir:CodeSystem.concept.code [ fhir:value "splice-donor-site" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Splice Donor Site" ]
  ], [
     fhir:index 4 ;
     fhir:CodeSystem.concept.code [ fhir:value "intronic" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Intronic" ]
  ], [
     fhir:index 5 ;
     fhir:CodeSystem.concept.code [ fhir:value "splice-region" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Splice Region" ]
  ], [
     fhir:index 6 ;
     fhir:CodeSystem.concept.code [ fhir:value "5'UTR" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "5' UTR" ]
  ], [
     fhir:index 7 ;
     fhir:CodeSystem.concept.code [ fhir:value "3'UTR" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "3' UTR" ]
  ], [
     fhir:index 8 ;
     fhir:CodeSystem.concept.code [ fhir:value "substitution-coding-silent" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Substitution - coding silent" ]
  ], [
     fhir:index 9 ;
     fhir:CodeSystem.concept.code [ fhir:value "nonstop-extension" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Nonstop extension" ]
  ], [
     fhir:index 10 ;
     fhir:CodeSystem.concept.code [ fhir:value "substitution-nonsense" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Substitution - Nonsense" ]
  ], [
     fhir:index 11 ;
     fhir:CodeSystem.concept.code [ fhir:value "substitution-missense" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Substitution - Missense" ]
  ], [
     fhir:index 12 ;
     fhir:CodeSystem.concept.code [ fhir:value "deletion-in-frame" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Deletion - In frame" ]
  ], [
     fhir:index 13 ;
     fhir:CodeSystem.concept.code [ fhir:value "insertion-in-frame" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Insertion - In frame" ]
  ], [
     fhir:index 14 ;
     fhir:CodeSystem.concept.code [ fhir:value "complex-deletion-inframe" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Complex - deletion inframe" ]
  ], [
     fhir:index 15 ;
     fhir:CodeSystem.concept.code [ fhir:value "complex-insertion-inframe" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Complex - insertion inframe" ]
  ], [
     fhir:index 16 ;
     fhir:CodeSystem.concept.code [ fhir:value "complex-compound-substitution" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Complex - compound substitution" ]
  ], [
     fhir:index 17 ;
     fhir:CodeSystem.concept.code [ fhir:value "frameshift" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Frameshift" ]
  ], [
     fhir:index 18 ;
     fhir:CodeSystem.concept.code [ fhir:value "amplification" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Amplification" ]
  ], [
     fhir:index 19 ;
     fhir:CodeSystem.concept.code [ fhir:value "loss" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Loss" ]
  ], [
     fhir:index 20 ;
     fhir:CodeSystem.concept.code [ fhir:value "fusion" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Fusion" ]
  ], [
     fhir:index 21 ;
     fhir:CodeSystem.concept.code [ fhir:value "itd" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "ITD" ]
  ], [
     fhir:index 22 ;
     fhir:CodeSystem.concept.code [ fhir:value "exon-skipping" ] ;
     fhir:CodeSystem.concept.display [ fhir:value "Exon Skipping" ]
  ] .

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

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