This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="ConditionInheritanceMode"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p>This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style="white-space:nowrap">GENO:0000143<a name="ConditionInheritanceMode-GENO.580000143"> </a></td><td>Codominant inheritance</td></tr><tr><td style="white-space:nowrap">GENO:0000889<a name="ConditionInheritanceMode-GENO.580000889"> </a></td><td>Unknown inheritance</td></tr><tr><td style="white-space:nowrap">GENO:0000892<a name="ConditionInheritanceMode-GENO.580000892"> </a></td><td>Mitochondrial inheritance (primarily or exclusively heteroplasmic)</td></tr><tr><td style="white-space:nowrap">GENO:0000893<a name="ConditionInheritanceMode-GENO.580000893"> </a></td><td>Mitochondrial inheritance (primarily or exclusively homoplasmic)</td></tr><tr><td style="white-space:nowrap">HP:0000006<a name="ConditionInheritanceMode-HP.580000006"> </a></td><td>Autosomal dominant inheritance</td></tr><tr><td style="white-space:nowrap">HP:0000007<a name="ConditionInheritanceMode-HP.580000007"> </a></td><td>Autosomal recessive inheritance</td></tr><tr><td style="white-space:nowrap">HP:0001417<a name="ConditionInheritanceMode-HP.580001417"> </a></td><td>X-linked inheritance</td></tr><tr><td style="white-space:nowrap">HP:0001419<a name="ConditionInheritanceMode-HP.580001419"> </a></td><td>X-linked inheritance (recessive)</td></tr><tr><td style="white-space:nowrap">HP:0001423<a name="ConditionInheritanceMode-HP.580001423"> </a></td><td>X-linked inheritance (dominant)</td></tr><tr><td style="white-space:nowrap">HP:0001426<a name="ConditionInheritanceMode-HP.580001426"> </a></td><td>Multifactorial inheritance</td></tr><tr><td style="white-space:nowrap">HP:0001427<a name="ConditionInheritanceMode-HP.580001427"> </a></td><td>Mitochondrial inheritance</td></tr><tr><td style="white-space:nowrap">HP:0001428<a name="ConditionInheritanceMode-HP.580001428"> </a></td><td>Somatic mutation</td></tr><tr><td style="white-space:nowrap">HP:0001450<a name="ConditionInheritanceMode-HP.580001450"> </a></td><td>Y-linked inheritance</td></tr><tr><td style="white-space:nowrap">HP:0001470<a name="ConditionInheritanceMode-HP.580001470"> </a></td><td>Autosomal dominant inheritance (sex-limited)</td></tr><tr><td style="white-space:nowrap">HP:0003743<a name="ConditionInheritanceMode-HP.580003743"> </a></td><td>Genetic anticipation</td></tr><tr><td style="white-space:nowrap">HP:0003745<a name="ConditionInheritanceMode-HP.580003745"> </a></td><td>Sporadic</td></tr><tr><td style="white-space:nowrap">HP:0010983<a name="ConditionInheritanceMode-HP.580010983"> </a></td><td>Oligogenic</td></tr><tr><td style="white-space:nowrap">HP:0012274<a name="ConditionInheritanceMode-HP.580012274"> </a></td><td>Autosomal dominant inheritance (with paternal imprinting)</td></tr><tr><td style="white-space:nowrap">HP:0012275<a name="ConditionInheritanceMode-HP.580012275"> </a></td><td>Autosomal dominant inheritance (with maternal imprinting)</td></tr><tr><td style="white-space:nowrap">HP:0025352<a name="ConditionInheritanceMode-HP.580025352"> </a></td><td>Autosomal dominant inheritance (primarily or exclusively de novo)</td></tr><tr><td style="white-space:nowrap">HP:0031362<a name="ConditionInheritanceMode-HP.580031362"> </a></td><td>Autosomal recessive inheritance (sex-limited)</td></tr><tr><td style="white-space:nowrap">SEPIO-CG:97020<a name="ConditionInheritanceMode-SEPIO-CG.5897020"> </a></td><td>Semidominant inheritance</td></tr><tr><td style="white-space:nowrap">SEPIO-CG:97021<a name="ConditionInheritanceMode-SEPIO-CG.5897021"> </a></td><td>X-linked inheritance (primarily recessive with milder female expression)</td></tr><tr><td style="white-space:nowrap">SEPIO-CG:97022<a name="ConditionInheritanceMode-SEPIO-CG.5897022"> </a></td><td>Autosomal dominant inheritance (with genetic anticipation)</td></tr><tr><td style="white-space:nowrap">SEPIO-CG:97023<a name="ConditionInheritanceMode-SEPIO-CG.5897023"> </a></td><td>Autosomal recessive inheritance (with genetic anticipation)</td></tr></table></div>
</text>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode"/>
<version value="1.1.0"/>
<name value="ConditionInheritanceMode"/>
<title value="Condition Inheritance Pattern"/>
<status value="active"/>
<date value="2021-04-13T19:13:37+00:00"/>
<publisher value="HL7 International Clinical Genomics Work Group"/>
<contact>
<telecom>
<system value="url"/>
<value value="http://www.hl7.org/Special/committees/clingenomics"/>
</telecom>
</contact>
<description
value="A set of terms that describe the transmission pattern of a condition in a pedigree."/>
<jurisdiction>
<coding>
<system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
<code value="001"/>
</coding>
</jurisdiction>
<content value="complete"/>
<count value="25"/>
<concept>
<code value="GENO:0000143"/>
<display value="Codominant inheritance"/>
</concept>
<concept>
<code value="GENO:0000889"/>
<display value="Unknown inheritance"/>
</concept>
<concept>
<code value="GENO:0000892"/>
<display
value="Mitochondrial inheritance (primarily or exclusively heteroplasmic)"/>
</concept>
<concept>
<code value="GENO:0000893"/>
<display
value="Mitochondrial inheritance (primarily or exclusively homoplasmic)"/>
</concept>
<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 inheritance (recessive)"/>
</concept>
<concept>
<code value="HP:0001423"/>
<display value="X-linked inheritance (dominant)"/>
</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:0001428"/>
<display value="Somatic mutation"/>
</concept>
<concept>
<code value="HP:0001450"/>
<display value="Y-linked inheritance"/>
</concept>
<concept>
<code value="HP:0001470"/>
<display value="Autosomal dominant inheritance (sex-limited)"/>
</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"/>
</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="Autosomal dominant inheritance (primarily or exclusively de novo)"/>
</concept>
<concept>
<code value="HP:0031362"/>
<display value="Autosomal recessive inheritance (sex-limited)"/>
</concept>
<concept>
<code value="SEPIO-CG:97020"/>
<display value="Semidominant inheritance"/>
</concept>
<concept>
<code value="SEPIO-CG:97021"/>
<display
value="X-linked inheritance (primarily recessive with milder female expression)"/>
</concept>
<concept>
<code value="SEPIO-CG:97022"/>
<display value="Autosomal dominant inheritance (with genetic anticipation)"/>
</concept>
<concept>
<code value="SEPIO-CG:97023"/>
<display value="Autosomal recessive inheritance (with genetic anticipation)"/>
</concept>
</CodeSystem>