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'BRCA1 associated protein 1 tumor predisposition'-syndroom (aandoening)
'BRCA1 associated protein 1 tumor predisposition'-syndroom
BAP1-tumorpredispositiesyndroom
BAP1 tumor predisposition syndrome
syndroom van BRCA1-geassocieerde-proteïne-1 tumorpredispositie
BAP1 tumor predisposition syndrome
Tumor susceptibility associated with germline BAP1 mutation
BAP1-related tumor predisposition syndrome
BRCA1 associated protein 1 tumor predisposition syndrome
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
Id765057007
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetZ80.9
TermFamilie-anamnese met maligne neoplasma, niet gespecificeerd
SNOMED CT to Orphanet simple map289539
SNOMED CT to ICD-10 extended map
TargetZ80.9
RuleTRUE
AdviceALWAYS Z80.9
CorrelationSNOMED CT source code to target map code correlation not specified