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412734009: BRCA1 gene mutation detected (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
2474292019 BRCA1 gene mutation positive en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2871914019 Breast cancer 1, early onset gene mutation positive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5181101018 BRCA1 gene mutation detected (finding) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5181102013 BRCA1 gene mutation detected en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2468187015 BRCA1 gene mutation positive (finding) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2474292019 BRCA1 gene mutation positive en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2871914019 Breast cancer 1, early onset gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2871914019 Breast cancer 1, early onset gene mutation positive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5181101018 BRCA1 gene mutation detected (finding) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5181102013 BRCA1 gene mutation detected en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5643061000241113 mutation du gène BRCA1 détectée fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5643071000241117 test de détection de mutation du gène BRCA1 positif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5643061000241113 mutation du gène BRCA1 détectée fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5643071000241117 test de détection de mutation du gène BRCA1 positif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
BRCA1 gene mutation detected (finding) Is a Positive genetic finding false Inferred relationship Existential restriction modifier (core metadata concept)
BRCA1 gene mutation detected (finding) Interprets BRCA1 mutation carrier detection test (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
BRCA1 gene mutation detected (finding) Finding method Procedure false Inferred relationship Existential restriction modifier (core metadata concept)
BRCA1 gene mutation detected (finding) Has interpretation Positive false Inferred relationship Existential restriction modifier (core metadata concept) 1
BRCA1 gene mutation detected (finding) Interprets BRCA1 mutation carrier detection test (procedure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
BRCA1 gene mutation detected (finding) Has interpretation Positive false Inferred relationship Existential restriction modifier (core metadata concept) 1
BRCA1 gene mutation detected (finding) Is a Breast cancer genetic marker of susceptibility positive true Inferred relationship Existential restriction modifier (core metadata concept)
BRCA1 gene mutation detected (finding) Has interpretation Detected (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of breast cancer 1 gene mutation (situation) Associated finding False BRCA1 gene mutation detected (finding) Inferred relationship Existential restriction modifier (core metadata concept) 1
Family history of breast cancer 1 gene mutation (situation) Associated finding True BRCA1 gene mutation detected (finding) Inferred relationship Existential restriction modifier (core metadata concept) 1
Family history of breast cancer 1 gene mutation (situation) Associated finding False BRCA1 gene mutation detected (finding) Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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