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 Penetrance

Active as of 2026-09-14

Raw xml | Download


<ValueSet xmlns="http://hl7.org/fhir">
  <id value="mii-vs-seltene-penetrance"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset"/>
    <profile
             value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"/>
  </meta>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><p class="res-header-id"><b>Generated Narrative: ValueSet mii-vs-seltene-penetrance</b></p><a name="mii-vs-seltene-penetrance"> </a><a name="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>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
    <valueCode value="shareable"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
    <valueCode value="publishable"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
    <valueCode value="computable"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy">
    <valueCodeableConcept>
      <coding>
        <system
                value="http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes"/>
        <code value="package"/>
        <display value="Package"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/resource-approvalDate">
    <valueDate value="2026-09-02"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-topic">
    <valueCodeableConcept>
      <coding>
        <system value="http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"/>
        <code value="C4873"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-author">
    <valueContactDetail>
      <telecom>
        <system value="email"/>
        <value value="thomas.debertshaeuser@charite.de"/>
      </telecom>
    </valueContactDetail>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-editor">
    <valueContactDetail>
      <name value="Taskforce Core Data Set"/>
    </valueContactDetail>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-reviewer">
    <valueContactDetail>
      <name value="Interoperability Working Group"/>
      <telecom>
        <system value="url"/>
        <value
               value="https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"/>
      </telecom>
    </valueContactDetail>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-reviewer">
    <valueContactDetail>
      <name value="National Steering Committee"/>
      <telecom>
        <system value="url"/>
        <value
               value="https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"/>
      </telecom>
    </valueContactDetail>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-endorser">
    <valueContactDetail>
      <name value="Interoperability Working Group"/>
      <telecom>
        <system value="url"/>
        <value
               value="https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"/>
      </telecom>
    </valueContactDetail>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/artifact-endorser">
    <valueContactDetail>
      <name value="National Steering Committee"/>
      <telecom>
        <system value="url"/>
        <value
               value="https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"/>
      </telecom>
    </valueContactDetail>
  </extension>
  <url
       value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-penetrance"/>
  <version value="2027.0.0-ballot"/>
  <name value="MII_VS_Seltene_Penetrance"/>
  <title value="MII VS SE Penetrance"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2026-09-14T21:59:44+00:00"/>
  <publisher value="Medizininformatik Initiative"/>
  <contact>
    <name value="Medizininformatik Initiative"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.medizininformatik-initiative.de/"/>
    </telecom>
  </contact>
  <description
               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."/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="DE"/>
      <display value="Germany"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="http://human-phenotype-ontology.org"/>
      <concept>
        <code value="HP:0034950"/>
        <display value="Typified by complete penetrance"/>
      </concept>
      <concept>
        <code value="HP:0003829"/>
        <display value="Typified by incomplete penetrance"/>
      </concept>
      <concept>
        <code value="HP:4000158"/>
        <display value="Typified by high penetrance"/>
      </concept>
      <concept>
        <code value="HP:4000159"/>
        <display value="Typified by moderate penetrance"/>
      </concept>
      <concept>
        <code value="HP:4000160"/>
        <display value="Typified by low penetrance"/>
      </concept>
      <concept>
        <code value="HP:0003831"/>
        <display value="Typified by age-related disease onset"/>
      </concept>
    </include>
  </compose>
</ValueSet>