Genomics Reporting Implementation Guide
2.0.0 - trial-use
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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions 
<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>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <code>http://www.ebi.ac.uk/ols/ontologies/geno</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0000143</td><td>Codominant inheritance</td></tr><tr><td>0000889</td><td>Unknown inheritance</td></tr><tr><td>0000892</td><td>Mitochondrial inheritance (primarily or exclusively heteroplasmic)</td></tr><tr><td>0000893</td><td>Mitochondrial inheritance (primarily or exclusively homoplasmic)</td></tr></table></li><li>Include these codes as defined in <code>http://hpo.jax.org/app/</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0000006</td><td>Autosomal dominant inheritance</td></tr><tr><td>0000007</td><td>Autosomal recessive inheritance</td></tr><tr><td>0001417</td><td>X-linked inheritance</td></tr><tr><td>0001419</td><td>X-linked inheritance (recessive)</td></tr><tr><td>0001423</td><td>X-linked inheritance (dominant)</td></tr><tr><td>0001426</td><td>Multifactorial inheritance</td></tr><tr><td>0001427</td><td>Mitochondrial inheritance</td></tr><tr><td>0001428</td><td>Somatic mutation</td></tr><tr><td>0001450</td><td>Y-linked inheritance</td></tr><tr><td>0001470</td><td>Autosomal dominant inheritance (sex-limited)</td></tr><tr><td>0003743</td><td>Genetic anticipation</td></tr><tr><td>0003745</td><td>Sporadic</td></tr><tr><td>0010983</td><td>Oligogenic</td></tr><tr><td>0012274</td><td>Autosomal dominant inheritance (with paternal imprinting)</td></tr><tr><td>0012275</td><td>Autosomal dominant inheritance (with maternal imprinting)</td></tr><tr><td>0025352</td><td>Autosomal dominant inheritance (primarily or exclusively de novo)</td></tr><tr><td>0031362</td><td>Autosomal recessive inheritance (sex-limited)</td></tr></table></li><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/sepio-clingen</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>97020</td><td>Semidominant inheritance</td></tr><tr><td>97021</td><td>X-linked inheritance (primarily recessive with milder female expression)</td></tr><tr><td>97022</td><td>Autosomal dominant inheritance (with genetic anticipation)</td></tr><tr><td>97023</td><td>Autosomal recessive inheritance (with genetic anticipation)</td></tr></table></li></ul></div>
</text>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"/>
<version value="2.0.0"/>
<name value="ConditionInheritanceModeVS"/>
<title value="Condition Inheritance Patterns"/>
<status value="active"/>
<date value="2022-05-09T16:53:07+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="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://www.ebi.ac.uk/ols/ontologies/geno"/>
<concept>
<code value="0000143"/>
<display value="Codominant inheritance"/>
</concept>
<concept>
<code value="0000889"/>
<display value="Unknown inheritance"/>
</concept>
<concept>
<code value="0000892"/>
<display
value="Mitochondrial inheritance (primarily or exclusively heteroplasmic)"/>
</concept>
<concept>
<code value="0000893"/>
<display
value="Mitochondrial inheritance (primarily or exclusively homoplasmic)"/>
</concept>
</include>
<include>
<system value="http://hpo.jax.org/app/"/>
<concept>
<code value="0000006"/>
<display value="Autosomal dominant inheritance"/>
</concept>
<concept>
<code value="0000007"/>
<display value="Autosomal recessive inheritance"/>
</concept>
<concept>
<code value="0001417"/>
<display value="X-linked inheritance"/>
</concept>
<concept>
<code value="0001419"/>
<display value="X-linked inheritance (recessive)"/>
</concept>
<concept>
<code value="0001423"/>
<display value="X-linked inheritance (dominant)"/>
</concept>
<concept>
<code value="0001426"/>
<display value="Multifactorial inheritance"/>
</concept>
<concept>
<code value="0001427"/>
<display value="Mitochondrial inheritance"/>
</concept>
<concept>
<code value="0001428"/>
<display value="Somatic mutation"/>
</concept>
<concept>
<code value="0001450"/>
<display value="Y-linked inheritance"/>
</concept>
<concept>
<code value="0001470"/>
<display value="Autosomal dominant inheritance (sex-limited)"/>
</concept>
<concept>
<code value="0003743"/>
<display value="Genetic anticipation"/>
</concept>
<concept>
<code value="0003745"/>
<display value="Sporadic"/>
</concept>
<concept>
<code value="0010983"/>
<display value="Oligogenic"/>
</concept>
<concept>
<code value="0012274"/>
<display
value="Autosomal dominant inheritance (with paternal imprinting)"/>
</concept>
<concept>
<code value="0012275"/>
<display
value="Autosomal dominant inheritance (with maternal imprinting)"/>
</concept>
<concept>
<code value="0025352"/>
<display
value="Autosomal dominant inheritance (primarily or exclusively de novo)"/>
</concept>
<concept>
<code value="0031362"/>
<display value="Autosomal recessive inheritance (sex-limited)"/>
</concept>
</include>
<include>
<system value="http://purl.obolibrary.org/obo/sepio-clingen"/>
<concept>
<code value="97020"/>
<display value="Semidominant inheritance"/>
</concept>
<concept>
<code value="97021"/>
<display
value="X-linked inheritance (primarily recessive with milder female expression)"/>
</concept>
<concept>
<code value="97022"/>
<display
value="Autosomal dominant inheritance (with genetic anticipation)"/>
</concept>
<concept>
<code value="97023"/>
<display
value="Autosomal recessive inheritance (with genetic anticipation)"/>
</concept>
</include>
</compose>
</ValueSet>
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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