766707003: syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2 (trouble)

• SNOMED CT Concept\constatation clinique\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662331016	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662332011	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
768171000241114	syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
944451000172113	syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3662333018	A rare cancer-predisposing syndrome associated with the D1 subgroup of Fanconi anemia characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other Fanconi anemia, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and acute lymphoblastic leukemia /acute myeloid leukemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662334012	A rare cancer-predisposing syndrome associated with the D1 subgroup of Fanconi anaemia characterised by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other Fanconi anaemia, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumour, brain tumour (often medulloblastoma) and acute lymphoblastic leukaemia /acute myeloid leukaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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