766707003: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3662332011	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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