MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
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
| Active as of 2026-09-14 |
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"div" : "<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>"
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"description" : "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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