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

## : Condition Inheritance Patterns - XML Representation

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

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    <ValueSet xmlns="http://hl7.org/fhir">
      <id value="condition-inheritance-mode-vs"/>
      <text>
        <status value="generated"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet condition-inheritance-mode-vs</b></p><a name="condition-inheritance-mode-vs"> </a><a name="hccondition-inheritance-mode-vs"> </a><ul><li>Include these codes as defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-HPO.html"><code>http://human-phenotype-ontology.org</code></a><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>HP:0000006</td><td>Autosomal dominant inheritance</td></tr><tr><td>HP:0000007</td><td>Autosomal recessive inheritance</td></tr><tr><td>HP:0001417</td><td>X-linked inheritance</td></tr><tr><td>HP:0001419</td><td>X-linked recessive inheritance</td></tr><tr><td>HP:0001423</td><td>X-linked dominant inheritance</td></tr><tr><td>HP:0001426</td><td>Multifactorial inheritance</td></tr><tr><td>HP:0001427</td><td>Mitochondrial inheritance</td></tr><tr><td>HP:0001442</td><td>Typified by somatic mosaicism</td></tr><tr><td>HP:0001450</td><td>Y-linked inheritance</td></tr><tr><td>HP:0001470</td><td>Sex-limited expression</td></tr><tr><td>HP:0003743</td><td>Genetic anticipation</td></tr><tr><td>HP:0003745</td><td>Sporadic</td></tr><tr><td>HP:0010983</td><td>Oligogenic inheritance</td></tr><tr><td>HP:0012274</td><td>Autosomal dominant inheritance with paternal imprinting</td></tr><tr><td>HP:0012275</td><td>Autosomal dominant inheritance with maternal imprinting</td></tr><tr><td>HP:0025352</td><td>Typically de novo</td></tr><tr><td>HP:0032113</td><td>Semidominant inheritance</td></tr></table></li></ul></div>
      </text>
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                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
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                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
        <valueInteger value="2">
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                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
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                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
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            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"/>
      <version value="4.0.0-cibuild"/>
      <name value="ConditionInheritanceModeVS"/>
      <title value="Condition Inheritance Patterns"/>
      <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="Value Set for specific transmission patterns of a condition in a pedigree"/>
      <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://human-phenotype-ontology.org"/>
          <concept>
            <code value="HP:0000006"/>
            <display value="Autosomal dominant inheritance"/>
          </concept>
          <concept>
            <code value="HP:0000007"/>
            <display value="Autosomal recessive inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001417"/>
            <display value="X-linked inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001419"/>
            <display value="X-linked recessive inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001423"/>
            <display value="X-linked dominant inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001426"/>
            <display value="Multifactorial inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001427"/>
            <display value="Mitochondrial inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001442"/>
            <display value="Typified by somatic mosaicism"/>
          </concept>
          <concept>
            <code value="HP:0001450"/>
            <display value="Y-linked inheritance"/>
          </concept>
          <concept>
            <code value="HP:0001470"/>
            <display value="Sex-limited expression"/>
          </concept>
          <concept>
            <code value="HP:0003743"/>
            <display value="Genetic anticipation"/>
          </concept>
          <concept>
            <code value="HP:0003745"/>
            <display value="Sporadic"/>
          </concept>
          <concept>
            <code value="HP:0010983"/>
            <display value="Oligogenic inheritance"/>
          </concept>
          <concept>
            <code value="HP:0012274"/>
            <display
                     value="Autosomal dominant inheritance with paternal imprinting"/>
          </concept>
          <concept>
            <code value="HP:0012275"/>
            <display
                     value="Autosomal dominant inheritance with maternal imprinting"/>
          </concept>
          <concept>
            <code value="HP:0025352"/>
            <display value="Typically de novo"/>
          </concept>
          <concept>
            <code value="HP:0032113"/>
            <display value="Semidominant inheritance"/>
          </concept>
        </include>
      </compose>
    </ValueSet>