| hereditair tumorpredispositiesyndroom door biallelische mutatie in BRCA2-gen (aandoening) | | hereditair tumorpredispositiesyndroom door biallelische mutatie in BRCA2-gen | | erfelijk TPS door biallelische BRCA2-mutatie
| | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation | | 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. |
| | Id | 766707003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D61.0 | | Term | Constitutionele aplastische anemie |
| Target | Z80.9 | | Term | Familie-anamnese met maligne neoplasma, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 319462 |
| SNOMED CT to ICD-10 extended map | | Target | | | Rule | TRUE | | Advice | MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA | | Correlation | SNOMED CT source code to target map code correlation not specified |
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