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

MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions

: MII VS SE Penetrance

Active Stand: 2026-09-14

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    <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-penetrance</b></p><a name="de-mii-vs-seltene-penetrance"> </a><a name="de-hcmii-vs-seltene-penetrance"> </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><ul><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:0034950</td><td>Typified by complete penetrance</td></tr><tr><td>HP:0003829</td><td>Typified by incomplete penetrance</td></tr><tr><td>HP:4000158</td><td>Typified by high penetrance</td></tr><tr><td>HP:4000159</td><td>Typified by moderate penetrance</td></tr><tr><td>HP:4000160</td><td>Typified by low penetrance</td></tr><tr><td>HP:0003831</td><td>Typified by age-related disease onset</td></tr></table></li></ul></div>
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  <name value="MII_VS_Seltene_Penetrance"/>
  <title value="MII VS SE Penetrance"/>
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  <date value="2026-09-14T22:11:28+00:00"/>
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               value="Value set for qualitative descriptions of genetic penetrance, drawn from the HPO branch Inheritance qualifier (HP:0034335). Note that the graded terms (high/moderate/low penetrance) are subtypes of incomplete penetrance, not alternatives to complete penetrance."/>
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