Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## : Sequence Phase Relationship Codes - XML Representation

Page standards status: Trial-use | Maturity Level: 2

Raw xml | Download

    <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 class="res-header-id"><b>Generated Narrative: CodeSystem sequence-phase-relationship-cs</b></p><a name="sequence-phase-relationship-cs"> </a><a name="hcsequence-phase-relationship-cs"> </a><p>This case-sensitive code system <code>http://terminology.hl7.org/CodeSystem/sequence-phase-relationship-cs</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</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>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>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>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>Phase is unknown</td></tr></table></div>
      </text>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
        <valueCode value="cg"/>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
        <valueInteger value="2">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueInteger>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
        <valueCode value="trial-use">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://terminology.hl7.org/CodeSystem/sequence-phase-relationship-cs"/>
      <version value="4.0.0-cibuild"/>
      <name value="SequencePhaseRelationshipCS"/>
      <title value="Sequence Phase Relationship Codes"/>
      <status value="active"/>
      <experimental value="false"/>
      <date value="2025-11-08T00:09:50+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="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>