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hereditair syndroom van mammacarcinoom en ovariumcarcinoom (aandoening)
hereditair syndroom van mammacarcinoom en ovariumcarcinoom
erfelijk syndroom van borst- en eierstokkanker
Hereditary breast and ovarian cancer syndrome
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbor PVs in HBOC genes do not have a suggestive family history.
Id718220008
StatusPrimitive
Associated morphologymaligne neoplasma
Finding sitestructuur van mamma
Associated morphologymaligne neoplasma
Finding sitestructuur van ovarium
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map145
SNOMED CT to ICD-10 extended map
TargetC50.9
RuleTRUE
AdviceALWAYS C50.9 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified
TargetC56
RuleTRUE
AdviceALWAYS C56 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified