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


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704237014 Hereditary site-specific ovarian cancer syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3704238016 Hereditary site-specific ovarian cancer syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary site-specific ovarian cancer syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a Familial ovarian cancer true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Associated morphology Malignant neoplasm true Inferred relationship Some 1
Hereditary site-specific ovarian cancer syndrome Pathological process Primary malignant neoplastic proliferation true Inferred relationship Some 1
Hereditary site-specific ovarian cancer syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a Familial neoplastic disease false Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a Primary malignant neoplasm of ovary true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Associated morphology Neoplasm, malignant (primary) false Inferred relationship Some 1
Hereditary site-specific ovarian cancer syndrome Finding site Ovarian structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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