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Hereditary site-specific ovarian cancer syndrome (disorder)
Hereditary site-specific ovarian cancer syndrome
Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal neoplasm). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.
hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie
erfelijk plaatsspecifiek eierstokkankersyndroom
Id771080008
StatusPrimitive
Associated morphologyNeoplasm, malignant (primary)
Finding siteOvarian structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetC56
RuleTRUE
AdviceALWAYS C56 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified