718220008: Hereditary breast and ovarian cancer syndrome (disorder)

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

3311567018 Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3874811000052116 ärftligt bröst- och äggstockscancersyndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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 tumor of ovary	false	Inferred relationship	Some
Hereditary breast and ovarian cancer syndrome (disorder)	Associated morphology	malign tumör, morfologi	false	Inferred relationship	Some	2
Hereditary breast and ovarian cancer syndrome (disorder)	Associated morphology	malign tumör, morfologi	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

Characteristic

Refinability

This concept is not in any reference sets

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
3311567018	Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3874811000052116	ärftligt bröst- och äggstockscancersyndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)