Allelic State Value Set

Describes the existence of an allele across multiple copies of a chromosome (Informed by LOINC answer list https://r.details.loinc.org/AnswerList/LL381-5.html but with additional codes for somatic mosaicism and asserted absence.)

SEPIO:0000338

Summary

IRI
SEPIO:0000338
Name
Allelic State Value Set
Description
Describes the existence of an allele across multiple copies of a chromosome (Informed by LOINC answer list https://r.details.loinc.org/AnswerList/LL381-5.html but with additional codes for somatic mosaicism and asserted absence.)

Included Codes

This value set includes codes from the following identifier systems:

  • 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 7 concepts.

IRI Label Description
GENO:0000134 hemizygous
GENO:0000135 heterozygous
GENO:0000136 homozygous
GENO:0000137 unspecified zygosity
GENO:0000602 homoplasmic
GENO:0000603 heteroplasmic
GENO:0000882 somatic