'BRCA1 associated protein 1 tumor predisposition'-syndroom (aandoening)
'BRCA1 associated protein 1 tumor predisposition'-syndroom
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
An inherited disorder that increases the risk of a variety of malignant and benign tumors most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasize. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumor cells. Inherited in an autosomal dominant pattern, in most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumor formation however not all will develop a tumor.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermFamilie-anamnese met maligne neoplasma, niet gespecificeerd
SNOMED CT to Orphanet simple map289539
SNOMED CT to ICD-10 extended map
AdviceALWAYS Z80.9
CorrelationSNOMED CT source code to target map code correlation not specified