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

: Condition Inheritance Patterns - XML Representation

Active as of 2024-07-15

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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><a name="condition-inheritance-mode-vs-en-US"> </a><ul><li>Include these codes as defined in <a href="http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html"><code>http://human-phenotype-ontology.org</code></a><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>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"/>
  <version value="3.0.1-SNAPSHOT"/>
  <name value="ConditionInheritanceModeVS"/>
  <title value="Condition Inheritance Patterns"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-07-15T14:36:15+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>