MII VS SE HPO Inheritance Pattern - MII IG Kerndatensatz-Modul Seltene Erkrankungen v2027.0.0-ballot

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

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)

Profiles: CRMI Shareable ValueSet, CRMI Publishable ValueSet

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)

Code	Display
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.

System	Code	Display (en)	JSON	XML
`http://human-phenotype-ontology.org`	HP:0000006	Autosomal dominant inheritance
`http://human-phenotype-ontology.org`	HP:0012275	Autosomal dominant inheritance with maternal imprinting
`http://human-phenotype-ontology.org`	HP:0012274	Autosomal dominant inheritance with paternal imprinting
`http://human-phenotype-ontology.org`	HP:0000007	Autosomal recessive inheritance
`http://human-phenotype-ontology.org`	HP:0001466	Contiguous gene syndrome
`http://human-phenotype-ontology.org`	HP:0010984	Digenic inheritance
`http://human-phenotype-ontology.org`	HP:0034344	Female-limited expression
`http://human-phenotype-ontology.org`	HP:0003743	Genetic anticipation
`http://human-phenotype-ontology.org`	HP:0003744	Genetic anticipation with paternal anticipation bias
`http://human-phenotype-ontology.org`	HP:0034338	Imprinted
`http://human-phenotype-ontology.org`	HP:0034335	Inheritance qualifier
`http://human-phenotype-ontology.org`	HP:0001475	Male-limited expression
`http://human-phenotype-ontology.org`	HP:0034345	Mendelian inheritance
`http://human-phenotype-ontology.org`	HP:0001427	Mitochondrial inheritance
`http://human-phenotype-ontology.org`	HP:0000005	Mode of inheritance
`http://human-phenotype-ontology.org`	HP:0001426	Non-Mendelian inheritance
`http://human-phenotype-ontology.org`	HP:0010983	Oligogenic inheritance
`http://human-phenotype-ontology.org`	HP:0010982	Polygenic inheritance
`http://human-phenotype-ontology.org`	HP:0034340	Pseudoautosomal dominant inheritance
`http://human-phenotype-ontology.org`	HP:0034339	Pseudoautosomal inheritance
`http://human-phenotype-ontology.org`	HP:0034341	Pseudoautosomal recessive inheritance
`http://human-phenotype-ontology.org`	HP:0034343	Requires heterozygosity
`http://human-phenotype-ontology.org`	HP:0032113	Semidominant inheritance
`http://human-phenotype-ontology.org`	HP:0001470	Sex-limited expression
`http://human-phenotype-ontology.org`	HP:0003745	Sporadic
`http://human-phenotype-ontology.org`	HP:0025352	Typically de novo
`http://human-phenotype-ontology.org`	HP:0003831	Typified by age-related disease onset
`http://human-phenotype-ontology.org`	HP:0034950	Typified by complete penetrance
`http://human-phenotype-ontology.org`	HP:4000158	Typified by high penetrance
`http://human-phenotype-ontology.org`	HP:0034857	Typified by highly variable age of onset
`http://human-phenotype-ontology.org`	HP:0003829	Typified by incomplete penetrance
`http://human-phenotype-ontology.org`	HP:4000160	Typified by low penetrance
`http://human-phenotype-ontology.org`	HP:4000159	Typified by moderate penetrance
`http://human-phenotype-ontology.org`	HP:0001442	Typified by somatic mosaicism
`http://human-phenotype-ontology.org`	HP:0032382	Uniparental disomy
`http://human-phenotype-ontology.org`	HP:0032383	Uniparental heterodisomy
`http://human-phenotype-ontology.org`	HP:0032384	Uniparental isodisomy
`http://human-phenotype-ontology.org`	HP:0001423	X-linked dominant inheritance
`http://human-phenotype-ontology.org`	HP:0001417	X-linked inheritance
`http://human-phenotype-ontology.org`	HP:0001419	X-linked recessive inheritance
`http://human-phenotype-ontology.org`	HP:0001450	Y-linked inheritance

Description of the above table(s).

IG © 2022+ Medizininformatik Initiative. Package de.medizininformatikinitiative.kerndatensatz.seltene#2027.0.0-ballot based on FHIR 4.0.1. Generated 2026-09-14
Links: Table of Contents | QA Report | netzwerk-universitaetsmedizin.de | medizininformatik-initiative.de | Legal notice
HL7®, FHIR® and the FHIR flame design are registered trademarks of Health Level Seven International. Their use does not constitute endorsement by HL7.