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: GenomOncology Mutation Types - TTL Representation

Active as of 2024-12-11

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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:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "mutation-type-codesystem"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir: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><a name=\"mutation-type-codesystem-en-US\"> </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:url [ fhir:v "http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.2.0"] ; # 
  fhir:name [ fhir:v "MutationType"] ; # 
  fhir:title [ fhir:v "GenomOncology Mutation Types"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:date [ fhir:v "2024-12-11T19:26:03+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "GenomOncology"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "GenomOncology" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://genomoncology.com" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Mutation types for variants defined by GenomOncology."] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "23"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "promoter" ] ;
fhir:display [ fhir:v "Promoter" ]
  ] [
fhir:code [ fhir:v "start-codon" ] ;
fhir:display [ fhir:v "Start Codon" ]
  ] [
fhir:code [ fhir:v "splice-acceptor-site" ] ;
fhir:display [ fhir:v "Splice Acceptor Site" ]
  ] [
fhir:code [ fhir:v "splice-donor-site" ] ;
fhir:display [ fhir:v "Splice Donor Site" ]
  ] [
fhir:code [ fhir:v "intronic" ] ;
fhir:display [ fhir:v "Intronic" ]
  ] [
fhir:code [ fhir:v "splice-region" ] ;
fhir:display [ fhir:v "Splice Region" ]
  ] [
fhir:code [ fhir:v "5'UTR" ] ;
fhir:display [ fhir:v "5' UTR" ]
  ] [
fhir:code [ fhir:v "3'UTR" ] ;
fhir:display [ fhir:v "3' UTR" ]
  ] [
fhir:code [ fhir:v "substitution-coding-silent" ] ;
fhir:display [ fhir:v "Substitution - coding silent" ]
  ] [
fhir:code [ fhir:v "nonstop-extension" ] ;
fhir:display [ fhir:v "Nonstop extension" ]
  ] [
fhir:code [ fhir:v "substitution-nonsense" ] ;
fhir:display [ fhir:v "Substitution - Nonsense" ]
  ] [
fhir:code [ fhir:v "substitution-missense" ] ;
fhir:display [ fhir:v "Substitution - Missense" ]
  ] [
fhir:code [ fhir:v "deletion-in-frame" ] ;
fhir:display [ fhir:v "Deletion - In frame" ]
  ] [
fhir:code [ fhir:v "insertion-in-frame" ] ;
fhir:display [ fhir:v "Insertion - In frame" ]
  ] [
fhir:code [ fhir:v "complex-deletion-inframe" ] ;
fhir:display [ fhir:v "Complex - deletion inframe" ]
  ] [
fhir:code [ fhir:v "complex-insertion-inframe" ] ;
fhir:display [ fhir:v "Complex - insertion inframe" ]
  ] [
fhir:code [ fhir:v "complex-compound-substitution" ] ;
fhir:display [ fhir:v "Complex - compound substitution" ]
  ] [
fhir:code [ fhir:v "frameshift" ] ;
fhir:display [ fhir:v "Frameshift" ]
  ] [
fhir:code [ fhir:v "amplification" ] ;
fhir:display [ fhir:v "Amplification" ]
  ] [
fhir:code [ fhir:v "loss" ] ;
fhir:display [ fhir:v "Loss" ]
  ] [
fhir:code [ fhir:v "fusion" ] ;
fhir:display [ fhir:v "Fusion" ]
  ] [
fhir:code [ fhir:v "itd" ] ;
fhir:display [ fhir:v "ITD" ]
  ] [
fhir:code [ fhir:v "exon-skipping" ] ;
fhir:display [ fhir:v "Exon Skipping" ]
  ] ) . #