771080008: Hereditary site-specific ovarian cancer syndrome (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3704237014 Hereditary site-specific ovarian cancer syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704238016 Hereditary site-specific ovarian cancer syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704239012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4208011000052116 ärftligt lokaliserat 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 site-specific ovarian cancer syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Hereditary site-specific ovarian cancer syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary site-specific ovarian cancer syndrome (disorder)	Is a	Familial neoplastic disease	true	Inferred relationship	Some
Hereditary site-specific ovarian cancer syndrome (disorder)	Is a	Primary malignant neoplasm of ovary	true	Inferred relationship	Some
Hereditary site-specific ovarian cancer syndrome (disorder)	Associated morphology	Malignant neoplasm, primary (morphologic abnormality)	true	Inferred relationship	Some	1
Hereditary site-specific ovarian cancer syndrome (disorder)	Finding site	Ovarian structure	true	Inferred relationship	Some	1
Hereditary site-specific ovarian cancer syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3704237014	Hereditary site-specific ovarian cancer syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704238016	Hereditary site-specific ovarian cancer syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704239012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4208011000052116	ärftligt lokaliserat äggstockscancersyndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)