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

ValueSet: MII VS SE HPO Inheritance Pattern

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-inheritance-pattern Version: 2027.0.0-ballot
Active as of 2026-09-14 Computable 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 (en)JSONXML
http://human-phenotype-ontology.org  HP:0000006Autosomal dominant inheritance
http://human-phenotype-ontology.org  HP:0012275Autosomal dominant inheritance with maternal imprinting
http://human-phenotype-ontology.org  HP:0012274Autosomal dominant inheritance with paternal imprinting
http://human-phenotype-ontology.org  HP:0000007Autosomal recessive inheritance
http://human-phenotype-ontology.org  HP:0001466Contiguous gene syndrome
http://human-phenotype-ontology.org  HP:0010984Digenic inheritance
http://human-phenotype-ontology.org  HP:0034344Female-limited expression
http://human-phenotype-ontology.org  HP:0003743Genetic anticipation
http://human-phenotype-ontology.org  HP:0003744Genetic anticipation with paternal anticipation bias
http://human-phenotype-ontology.org  HP:0034338Imprinted
http://human-phenotype-ontology.org  HP:0034335Inheritance qualifier
http://human-phenotype-ontology.org  HP:0001475Male-limited expression
http://human-phenotype-ontology.org  HP:0034345Mendelian inheritance
http://human-phenotype-ontology.org  HP:0001427Mitochondrial inheritance
http://human-phenotype-ontology.org  HP:0000005Mode of inheritance
http://human-phenotype-ontology.org  HP:0001426Non-Mendelian inheritance
http://human-phenotype-ontology.org  HP:0010983Oligogenic inheritance
http://human-phenotype-ontology.org  HP:0010982Polygenic inheritance
http://human-phenotype-ontology.org  HP:0034340Pseudoautosomal dominant inheritance
http://human-phenotype-ontology.org  HP:0034339Pseudoautosomal inheritance
http://human-phenotype-ontology.org  HP:0034341Pseudoautosomal recessive inheritance
http://human-phenotype-ontology.org  HP:0034343Requires heterozygosity
http://human-phenotype-ontology.org  HP:0032113Semidominant inheritance
http://human-phenotype-ontology.org  HP:0001470Sex-limited expression
http://human-phenotype-ontology.org  HP:0003745Sporadic
http://human-phenotype-ontology.org  HP:0025352Typically de novo
http://human-phenotype-ontology.org  HP:0003831Typified by age-related disease onset
http://human-phenotype-ontology.org  HP:0034950Typified by complete penetrance
http://human-phenotype-ontology.org  HP:4000158Typified by high penetrance
http://human-phenotype-ontology.org  HP:0034857Typified by highly variable age of onset
http://human-phenotype-ontology.org  HP:0003829Typified by incomplete penetrance
http://human-phenotype-ontology.org  HP:4000160Typified by low penetrance
http://human-phenotype-ontology.org  HP:4000159Typified by moderate penetrance
http://human-phenotype-ontology.org  HP:0001442Typified by somatic mosaicism
http://human-phenotype-ontology.org  HP:0032382Uniparental disomy
http://human-phenotype-ontology.org  HP:0032383Uniparental heterodisomy
http://human-phenotype-ontology.org  HP:0032384Uniparental isodisomy
http://human-phenotype-ontology.org  HP:0001423X-linked dominant inheritance
http://human-phenotype-ontology.org  HP:0001417X-linked inheritance
http://human-phenotype-ontology.org  HP:0001419X-linked recessive inheritance
http://human-phenotype-ontology.org  HP:0001450Y-linked inheritance

Description of the above table(s).