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: GenomOncology Mutation Types - XML Representation

Active as of 2024-12-11

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="mutation-type-codesystem"/>
  <text>
    <status value="generated"/>
    <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>
  </text>
  <url
       value="http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem"/>
  <version value="0.2.0"/>
  <name value="MutationType"/>
  <title value="GenomOncology Mutation Types"/>
  <status value="active"/>
  <date value="2024-12-11T19:26:03+00:00"/>
  <publisher value="GenomOncology"/>
  <contact>
    <name value="GenomOncology"/>
    <telecom>
      <system value="url"/>
      <value value="http://genomoncology.com"/>
    </telecom>
  </contact>
  <description value="Mutation types for variants defined by GenomOncology."/>
  <content value="complete"/>
  <count value="23"/>
  <concept>
    <code value="promoter"/>
    <display value="Promoter"/>
  </concept>
  <concept>
    <code value="start-codon"/>
    <display value="Start Codon"/>
  </concept>
  <concept>
    <code value="splice-acceptor-site"/>
    <display value="Splice Acceptor Site"/>
  </concept>
  <concept>
    <code value="splice-donor-site"/>
    <display value="Splice Donor Site"/>
  </concept>
  <concept>
    <code value="intronic"/>
    <display value="Intronic"/>
  </concept>
  <concept>
    <code value="splice-region"/>
    <display value="Splice Region"/>
  </concept>
  <concept>
    <code value="5'UTR"/>
    <display value="5' UTR"/>
  </concept>
  <concept>
    <code value="3'UTR"/>
    <display value="3' UTR"/>
  </concept>
  <concept>
    <code value="substitution-coding-silent"/>
    <display value="Substitution - coding silent"/>
  </concept>
  <concept>
    <code value="nonstop-extension"/>
    <display value="Nonstop extension"/>
  </concept>
  <concept>
    <code value="substitution-nonsense"/>
    <display value="Substitution - Nonsense"/>
  </concept>
  <concept>
    <code value="substitution-missense"/>
    <display value="Substitution - Missense"/>
  </concept>
  <concept>
    <code value="deletion-in-frame"/>
    <display value="Deletion - In frame"/>
  </concept>
  <concept>
    <code value="insertion-in-frame"/>
    <display value="Insertion - In frame"/>
  </concept>
  <concept>
    <code value="complex-deletion-inframe"/>
    <display value="Complex - deletion inframe"/>
  </concept>
  <concept>
    <code value="complex-insertion-inframe"/>
    <display value="Complex - insertion inframe"/>
  </concept>
  <concept>
    <code value="complex-compound-substitution"/>
    <display value="Complex - compound substitution"/>
  </concept>
  <concept>
    <code value="frameshift"/>
    <display value="Frameshift"/>
  </concept>
  <concept>
    <code value="amplification"/>
    <display value="Amplification"/>
  </concept>
  <concept>
    <code value="loss"/>
    <display value="Loss"/>
  </concept>
  <concept>
    <code value="fusion"/>
    <display value="Fusion"/>
  </concept>
  <concept>
    <code value="itd"/>
    <display value="ITD"/>
  </concept>
  <concept>
    <code value="exon-skipping"/>
    <display value="Exon Skipping"/>
  </concept>
</CodeSystem>