412738007: BRCA2 gene mutation positive (finding)

SNOMED CT Concept\Clinical finding (finding)\Evaluation finding\Genetic finding\Positive genetic finding (finding)\Breast cancer genetic marker of susceptibility positive (finding)\BRCA2 gene mutation positive (finding)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2468191013 BRCA2 gene mutation positive (finding) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2474295017 BRCA2 gene mutation positive en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2872218012 Breast cancer 2, early onset gene mutation positive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2352631000052111 förekomst av BRCA2-genmutation sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
BRCA2 gene mutation positive (finding)	Is a	Positive genetic finding (finding)	false	Inferred relationship	Some
BRCA2 gene mutation positive (finding)	Interprets	BRCA1 mutation carrier detection test (procedure)	false	Inferred relationship	Some
BRCA2 gene mutation positive (finding)	Finding method (attribute)	Procedure	false	Inferred relationship	Some
BRCA2 gene mutation positive (finding)	Has interpretation	Positive	false	Inferred relationship	Some	1
BRCA2 gene mutation positive (finding)	Interprets	BRCA2 mutation carrier detection test (procedure)	false	Inferred relationship	Some	1
BRCA2 gene mutation positive (finding)	Has interpretation	Positive	true	Inferred relationship	Some	1
BRCA2 gene mutation positive (finding)	Interprets	BRCA2 mutation carrier detection test (procedure)	true	Inferred relationship	Some	1
BRCA2 gene mutation positive (finding)	Is a	Breast cancer genetic marker of susceptibility positive (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of breast cancer 2 gene mutation (situation)	Associated finding	False	BRCA2 gene mutation positive (finding)	Inferred relationship	Some	1
Family history of breast cancer 2 gene mutation (situation)	Associated finding	True	BRCA2 gene mutation positive (finding)	Inferred relationship	Some	1
Family history of breast cancer 2 gene mutation (situation)	Associated finding	False	BRCA2 gene mutation positive (finding)	Inferred relationship	Some	1

This concept is not in any reference sets