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718220008: Hereditary breast and ovarian cancer syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3310356010 Hereditary breast and ovarian cancer syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311566010 Hereditary breast and ovarian cancer syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401732014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401733016 A genetic condition characterised 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 harbour PVs in HBOC genes do not have a suggestive family history. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary breast and ovarian cancer syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Is a Familial cancer of breast true Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Is a Malignant neoplasm of ovary (disorder) false Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Associated morphology Malignant neoplasm of primary, secondary, or uncertain origin false Inferred relationship Some 2
Hereditary breast and ovarian cancer syndrome (disorder) Associated morphology Malignant neoplasm of primary, secondary, or uncertain origin false Inferred relationship Some 3
Hereditary breast and ovarian cancer syndrome (disorder) Finding site Breast structure true Inferred relationship Some 2
Hereditary breast and ovarian cancer syndrome (disorder) Finding site Ovarian structure false Inferred relationship Some 3
Hereditary breast and ovarian cancer syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Is a Familial ovarian cancer true Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Associated morphology Malignant neoplasm (morphologic abnormality) true Inferred relationship Some 2
Hereditary breast and ovarian cancer syndrome (disorder) Finding site Ovarian structure true Inferred relationship Some 1
Hereditary breast and ovarian cancer syndrome (disorder) Associated morphology Malignant neoplasm (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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