Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: Molecular Consequence Value Set - XML Representation

Active as of 2024-04-09

Raw xml | Download



<ValueSet xmlns="http://hl7.org/fhir">
  <id value="molecular-consequence-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Include codes from <a href="http://sequenceontology.org"><code>http://sequenceontology.org</code></a> where concept  is-a  SO:0001537</li></ul></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs"/>
  <version value="3.0.1-SNAPSHOT"/>
  <name value="MolecularConsequenceVS"/>
  <title value="Molecular Consequence Value Set"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-04-09T13:57:55+00:00"/>
  <publisher value="HL7 International / Clinical Genomics"/>
  <contact>
    <name value="HL7 International / Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cg@lists.HL7.org"/>
    </telecom>
  </contact>
  <description
               value="The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="http://sequenceontology.org"/>
      <filter>
        <property value="concept"/>
        <op value="is-a"/>
        <value value="SO:0001537"/>
      </filter>
    </include>
  </compose>
</ValueSet>