FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

412738007: BRCA2-genmutatie positief (bevinding)

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
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
5181103015 BRCA2 gene mutation detected (finding) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5181104014 BRCA2 gene mutation detected en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
390631000146118 BRCA2-genmutatie positief nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
390641000146114 BRCA2-genmutatie positief (bevinding) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13278671000146112 BRCA-2-mutatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13480491000146115 Iemand heeft een grotere kans om borstkanker te krijgen door een afwijking in het DNA. Degene heeft de afwijking van zijn of haar vader of moeder heeft gekregen. De genen die meestal betrokken zijn bij erfelijke aanleg voor borstkanker, heten BRCA1, BRCA2, PALB2, ATM en CHECK2. Ook fouten in andere genen kunnen zorgen voor een erfelijke aanleg voor borstkanker nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13492051000146119 Een fout (mutatie) in het DNA. De fout zit in het BRCA-2-gen. Door deze fout is de kans op borstkanker en sommige andere kankersoorten groter. Deze fout kan je overerven van een van je ouders. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
BRCA2 gene mutation detected (finding) Is a Genetic finding detected false Inferred relationship Some
BRCA2 gene mutation detected (finding) Interprets BRCA1 mutation carrier detection test (procedure) false Inferred relationship Some
BRCA2 gene mutation detected (finding) Finding method (attribute) Procedure false Inferred relationship Some
BRCA2 gene mutation detected (finding) Has interpretation Positive false Inferred relationship Some 1
BRCA2 gene mutation detected (finding) Interprets BRCA2 mutation carrier detection test (procedure) false Inferred relationship Some 1
BRCA2 gene mutation detected (finding) Has interpretation Positive false Inferred relationship Some 1
BRCA2 gene mutation detected (finding) Interprets BRCA2 mutation carrier detection test (procedure) true Inferred relationship Some 1
BRCA2 gene mutation detected (finding) Is a Breast cancer genetic marker of susceptibility detected true Inferred relationship Some
BRCA2 gene mutation detected (finding) Has interpretation Detected true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of breast cancer 2 gene mutation (situation) Associated finding False BRCA2 gene mutation detected (finding) Inferred relationship Some 1
Family history of breast cancer 2 gene mutation (situation) Associated finding True BRCA2 gene mutation detected (finding) Inferred relationship Some 1
Family history of breast cancer 2 gene mutation (situation) Associated finding False BRCA2 gene mutation detected (finding) Inferred relationship Some 1

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start