NCPI-FHIR-IMPLEMENTATION-GUIDE\Condition Inheritance Pattern - XML Representation

NCPI FHIR Implementation Guide
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: Condition Inheritance Pattern - XML Representation

Active as of 2022-12-09


<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 <code>https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode</code> 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="https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode"/>
  <version value="0.2.0"/>
  <name value="ConditionInheritanceMode"/>
  <title value="Condition Inheritance Pattern"/>
  <status value="active"/>
  <date value="2022-12-09T17:30:30+00:00"/>
  <publisher value="NCPI FHIR Working Group"/>
  <contact>
    <name value="NCPI FHIR Working Group"/>
    <telecom>
      <system value="url"/>
      <value value="https://github.com/nih-ncpi"/>
    </telecom>
  </contact>
  <contact>
    <name value="Meen Chul Kim"/>
    <telecom>
      <system value="email"/>
      <value value="meenchul@d3b.center"/>
      <use value="work"/>
    </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>
IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
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