Condition Penetrance Value Set

The chance of having a particular genetic condition given the presence of a particular variant or damaged gene

SEPIO-CG:65114

Summary

IRI
SEPIO-CG:65114
Name
Condition Penetrance Value Set
Description
The chance of having a particular genetic condition given the presence of a particular variant or damaged gene

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 )

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 3 concepts.

IRI Label Description
HP:0003829 Incomplete
HP:000XXX1 Complete
HP:000XXX2 High