Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

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: ACMG Pathogenicity Classification Value Set - XML Representation

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="acmgPathogenicityClassification-vs"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/StructureDefinition/shareablevalueset"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Include these codes as defined in <code>http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0</td><td>NOT_PROVIDED</td></tr><tr><td>1</td><td>BENIGN</td></tr><tr><td>2</td><td>LIKELY_BENIGN</td></tr><tr><td>3</td><td>UNCERTAIN_SIGNIFICANCE</td></tr><tr><td>4</td><td>LIKELY_PATHOGENIC</td></tr><tr><td>5</td><td>PATHOGENIC</td></tr></table></li></ul></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cic"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs"/>
  <version value="0.1.0"/>
  <name value="AcmgPathogenicityClassificationVS"/>
  <title value="ACMG Pathogenicity Classification Value Set"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2024-06-18T22:11:07+00:00"/>
  <publisher value="HL7 International / Clinical Interoperability Council"/>
  <contact>
    <name value="HL7 International / Clinical Interoperability Council"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/cic"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cic@lists.HL7.org"/>
    </telecom>
  </contact>
  <description
               value="Describes the ACMG five-tier pathogenicity classification system (Richards et al., 2015, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/)."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <copyright
             value="This value set includes content from Phenopackets, which is copyright © 2016+ Global Alliance for Genomics and Health (GA4GH)"/>
  <compose>
    <include>
      <system
              value="http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification"/>
      <concept>
        <code value="0"/>
        <display value="NOT_PROVIDED"/>
      </concept>
      <concept>
        <code value="1"/>
        <display value="BENIGN"/>
      </concept>
      <concept>
        <code value="2"/>
        <display value="LIKELY_BENIGN"/>
      </concept>
      <concept>
        <code value="3"/>
        <display value="UNCERTAIN_SIGNIFICANCE"/>
      </concept>
      <concept>
        <code value="4"/>
        <display value="LIKELY_PATHOGENIC"/>
      </concept>
      <concept>
        <code value="5"/>
        <display value="PATHOGENIC"/>
      </concept>
    </include>
  </compose>
</ValueSet>