Inheritance Pattern Value Set

Classifies the transmission pattern of a condition in a pedigree. (see LOINC Answer List https://r.details.loinc.org/AnswerList/LL3731-8.html)

SEPIO:0000416

Summary

IRI
SEPIO:0000416
Name
Inheritance Pattern Value Set
Description
Classifies the transmission pattern of a condition in a pedigree. (see LOINC Answer List https://r.details.loinc.org/AnswerList/LL3731-8.html)

Included Codes

This value set includes codes from the following identifier systems:

  • Include any concept from http://purl.obolibrary.org/obo/hp# ( Human Phenotype Ontology )
  • Include any concept from http://purl.obolibrary.org/obo/geno# ( GENO )

Expansion

This value set is extensible and therefore can be extended to include concepts from the listed identifier systems by adding on the fly concepts defined by a sending system if no viable option from any of the identifier systems is acceptable.

This value set contains 25 concepts.

IRI Label Description
GENO:0000143 Codominant inheritance
GENO:0000889 Unknown inheritance
GENO:0000892 Mitochondrial inheritance (primarily or exclusively heteroplasmic)
GENO:0000893 Mitochondrial inheritance (primarily or exclusively homoplasmic)
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0001417 X-linked inheritance
HP:0001419 X-linked inheritance (recessive)
HP:0001423 X-linked inheritance (dominant)
HP:0001426 Multifactorial inheritance
HP:0001427 Mitochondrial inheritance
HP:0001428 Somatic mutation
HP:0001450 Y-linked inheritance
HP:0001470 Autosomal dominant inheritance (sex-limited)
HP:0003743 Genetic anticipation
HP:0003745 Sporadic
HP:0010983 Oligogenic
HP:0012274 Autosomal dominant inheritance (with paternal imprinting)
HP:0012275 Autosomal dominant inheritance (with maternal imprinting)
HP:0025352 Autosomal dominant inheritance (primarily or exclusively de novo)
HP:0031362 Autosomal recessive inheritance (sex-limited)
SEPIO-CG:97020 Semidominant inheritance
SEPIO-CG:97021 X-linked inheritance (primarily recessive with milder female expression)
SEPIO-CG:97022 Autosomal dominant inheritance (with genetic anticipation)
SEPIO-CG:97023 Autosomal recessive inheritance (with genetic anticipation)