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hereditair tumorpredispositiesyndroom door biallelische mutatie in BRCA2-gen (aandoening)
hereditair tumorpredispositiesyndroom door biallelische mutatie in BRCA2-gen
erfelijk TPS door biallelische BRCA2-mutatie
Dit betekent dat je bent geboren met een fout in je DNA. Daarom heb je meer kans op sommige vormen van kanker.
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), 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 FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
Id766707003
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map319462
SNOMED CT to ICD-10 extended map
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified