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 21 concepts.

IRI Label Description
GENO:0000143 Codominant
GENO:0000889 unknown inheritance
GENO:0000892 Heteroplasmic mitochondrial inheritance
GENO:0000893 Homoplasmic mitochondrial inheritance
HP:0000006 Autosomal Dominant
HP:0000007 Autosomal Recessive
HP:0001417 X linked inheritance
HP:0001419 X linked recessive inheritance
HP:0001423 X-linked dominant inheritance
HP:0001426 Multifactorial inheritance
HP:0001427 Mitochondrial inheritance
HP:0001428 Somatic mutation
HP:0001450 Y linked inheritance
HP:0001470 Sex-limited autosomal dominant
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 germline de novo mutation
HP:0031362 Sex-limited autosomal recessive inheritance