Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Sequence Phase Relationship Codes - XML Representation

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="sequence-phase-relationship-cs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/sequence-phase-relationship-cs defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap">Cis<a name="sequence-phase-relationship-cs-Cis"> </a></td><td>Cis</td><td>Phase is in cis (same chromosome)</td></tr><tr><td style="white-space:nowrap">Trans<a name="sequence-phase-relationship-cs-Trans"> </a></td><td>Trans</td><td>Phase is in trans (different chromosomes)</td></tr><tr><td style="white-space:nowrap">Indeterminate<a name="sequence-phase-relationship-cs-Indeterminate"> </a></td><td>Indeterminate</td><td>Phase is unable to be determined</td></tr><tr><td style="white-space:nowrap">Unknown<a name="sequence-phase-relationship-cs-Unknown"> </a></td><td>Unknown</td><td>Phase is unknown</td></tr></table></div>
  </text>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/sequence-phase-relationship-cs"/>
  <version value="2.0.0"/>
  <name value="SequencePhaseRelationshipCS"/>
  <title value="Sequence Phase Relationship Codes"/>
  <status value="active"/>
  <date value="2022-05-09T16:59:16+00:00"/>
  <publisher value="HL7 Clinical Genomics Working Group"/>
  <contact>
    <name value="HL7 Clinical Genomics Working Group"/>
    <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="Code System for specific types of relationships"/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="complete"/>
  <count value="4"/>
  <concept>
    <code value="Cis"/>
    <display value="Cis"/>
    <definition value="Phase is in cis (same chromosome)"/>
  </concept>
  <concept>
    <code value="Trans"/>
    <display value="Trans"/>
    <definition value="Phase is in trans (different chromosomes)"/>
  </concept>
  <concept>
    <code value="Indeterminate"/>
    <display value="Indeterminate"/>
    <definition value="Phase is unable to be determined"/>
  </concept>
  <concept>
    <code value="Unknown"/>
    <display value="Unknown"/>
    <definition value="Phase is unknown"/>
  </concept>
</CodeSystem>