MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) 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

: MII VS SE HPO Inheritance Pattern

Active Stand: 2026-09-14

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  <language value="de"/>
  <text>
    <status value="generated"/>
    <div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: ValueSet mii-vs-seltene-hpo-inheritance-pattern</b></p><a name="de-mii-vs-seltene-hpo-inheritance-pattern"> </a><a name="de-hcmii-vs-seltene-hpo-inheritance-pattern"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profiles: <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html">CRMI Shareable ValueSet</a>, <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html">CRMI Publishable ValueSet</a></p></div><p>This value set includes codes based on the following rules:</p><ul><li>Include codes from<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 explicitly stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span> where concept  is-a HP:0000005 (Mode of inheritance)</li><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 explicitly 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:0001427</td><td>Mitochondrial inheritance</td></tr><tr><td>HP:0001428</td><td>Typified by somatic mosaicism</td></tr><tr><td>HP:0003745</td><td>Sporadic</td></tr><tr><td>HP:0010983</td><td>Oligogenic inheritance</td></tr><tr><td>HP:0010982</td><td>Polygenic inheritance</td></tr><tr><td>HP:0001426</td><td>Non-Mendelian inheritance</td></tr><tr><td>HP:0012275</td><td>Autosomal dominant inheritance with maternal imprinting</td></tr><tr><td>HP:0012274</td><td>Autosomal dominant inheritance with paternal imprinting</td></tr></table></li></ul></div>
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  <version value="2027.0.0-ballot"/>
  <name value="MII_VS_Seltene_HPOInheritancePattern"/>
  <title value="MII VS SE HPO Inheritance Pattern"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2026-09-14T21:59:44+00:00"/>
  <publisher value="Medizininformatik Initiative"/>
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  <description
               value="Value set containing HPO terms for modes of inheritance"/>
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      <code value="DE"/>
      <display value="Germany"/>
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      <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:0001427"/>
        <display value="Mitochondrial inheritance"/>
      </concept>
      <concept>
        <code value="HP:0001428"/>
        <display value="Typified by somatic mosaicism"/>
      </concept>
      <concept>
        <code value="HP:0003745"/>
        <display value="Sporadic"/>
      </concept>
      <concept>
        <code value="HP:0010983"/>
        <display value="Oligogenic inheritance"/>
      </concept>
      <concept>
        <code value="HP:0010982"/>
        <display value="Polygenic inheritance"/>
      </concept>
      <concept>
        <code value="HP:0001426"/>
        <display value="Non-Mendelian inheritance"/>
      </concept>
      <concept>
        <code value="HP:0012275"/>
        <display
                 value="Autosomal dominant inheritance with maternal imprinting"/>
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      <concept>
        <code value="HP:0012274"/>
        <display
                 value="Autosomal dominant inheritance with paternal imprinting"/>
      </concept>
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