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. For a full list of available versions, see the Directory of published versions

ValueSet: MII VS SE HPO Inheritance Pattern

Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern Version: 2027.0.0-ballot
Active Stand: 2026-09-14 Maschinenlesbarer Name: MII_VS_Seltene_HPOInheritancePattern

Value set containing HPO terms for modes of inheritance

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

This value set includes codes based on the following rules:

  • Include codes fromhttp://human-phenotype-ontology.org version Not Stated (use latest from terminology server) where concept is-a HP:0000005 (Mode of inheritance)
  • Include these codes as defined in http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)
    CodeDisplay
    HP:0000006 Autosomal dominant inheritance
    HP:0000007 Autosomal recessive inheritance
    HP:0001417 X-linked inheritance
    HP:0001419 X-linked recessive inheritance
    HP:0001423 X-linked dominant inheritance
    HP:0001427 Mitochondrial inheritance
    HP:0001428 Typified by somatic mosaicism
    HP:0003745 Sporadic
    HP:0010983 Oligogenic inheritance
    HP:0010982 Polygenic inheritance
    HP:0001426 Non-Mendelian inheritance
    HP:0012275 Autosomal dominant inheritance with maternal imprinting
    HP:0012274 Autosomal dominant inheritance with paternal imprinting

 

Expansion

Expansion from 127.0.0.1 based on codesystem Human Phenotype Ontology version 20250303

This value set expansion contains 41 concepts.

SystemCodeDisplay (de)JSONXML
http://human-phenotype-ontology.org  HP:0000006
http://human-phenotype-ontology.org  HP:0012275
http://human-phenotype-ontology.org  HP:0012274
http://human-phenotype-ontology.org  HP:0000007
http://human-phenotype-ontology.org  HP:0001466
http://human-phenotype-ontology.org  HP:0010984
http://human-phenotype-ontology.org  HP:0034344
http://human-phenotype-ontology.org  HP:0003743
http://human-phenotype-ontology.org  HP:0003744
http://human-phenotype-ontology.org  HP:0034338
http://human-phenotype-ontology.org  HP:0034335
http://human-phenotype-ontology.org  HP:0001475
http://human-phenotype-ontology.org  HP:0034345
http://human-phenotype-ontology.org  HP:0001427
http://human-phenotype-ontology.org  HP:0000005
http://human-phenotype-ontology.org  HP:0001426
http://human-phenotype-ontology.org  HP:0010983
http://human-phenotype-ontology.org  HP:0010982
http://human-phenotype-ontology.org  HP:0034340
http://human-phenotype-ontology.org  HP:0034339
http://human-phenotype-ontology.org  HP:0034341
http://human-phenotype-ontology.org  HP:0034343
http://human-phenotype-ontology.org  HP:0032113
http://human-phenotype-ontology.org  HP:0001470
http://human-phenotype-ontology.org  HP:0003745
http://human-phenotype-ontology.org  HP:0025352
http://human-phenotype-ontology.org  HP:0003831
http://human-phenotype-ontology.org  HP:0034950
http://human-phenotype-ontology.org  HP:4000158
http://human-phenotype-ontology.org  HP:0034857
http://human-phenotype-ontology.org  HP:0003829
http://human-phenotype-ontology.org  HP:4000160
http://human-phenotype-ontology.org  HP:4000159
http://human-phenotype-ontology.org  HP:0001442
http://human-phenotype-ontology.org  HP:0032382
http://human-phenotype-ontology.org  HP:0032383
http://human-phenotype-ontology.org  HP:0032384
http://human-phenotype-ontology.org  HP:0001423
http://human-phenotype-ontology.org  HP:0001417
http://human-phenotype-ontology.org  HP:0001419
http://human-phenotype-ontology.org  HP:0001450

Beschreibung der obigen Tabelle(n).