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

ValueSet: MII VS SE Penetrance

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-penetrance Version: 2027.0.0-ballot
Active as of 2026-09-14 Computable Name: MII_VS_Seltene_Penetrance

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.

References

Logical Definition (CLD)

  • Include these codes as defined in http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)
    CodeDisplay
    HP:0034950Typified by complete penetrance
    HP:0003829Typified by incomplete penetrance
    HP:4000158Typified by high penetrance
    HP:4000159Typified by moderate penetrance
    HP:4000160Typified by low penetrance
    HP:0003831Typified by age-related disease onset

 

Expansion

Expansion from 127.0.0.1 based on codesystem Human Phenotype Ontology version 20250303

This value set contains 6 concepts

SystemCodeDisplay (en)JSONXML
http://human-phenotype-ontology.org  HP:0034950Typified by complete penetrance
http://human-phenotype-ontology.org  HP:0003829Typified by incomplete penetrance
http://human-phenotype-ontology.org  HP:4000158Typified by high penetrance
http://human-phenotype-ontology.org  HP:4000159Typified by moderate penetrance
http://human-phenotype-ontology.org  HP:4000160Typified by low penetrance
http://human-phenotype-ontology.org  HP:0003831Typified by age-related disease onset

Description of the above table(s).