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. |
| Id | 718220008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 145 |
SNOMED CT to ICD-10 extended map | Target | C50.9 | Rule | TRUE | Advice | ALWAYS C50.9 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | C56 | Rule | TRUE | Advice | ALWAYS C56 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | Correlation | SNOMED CT source code to target map code correlation not specified |
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