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771080008: syndrome héréditaire de prédisposition au cancer de l'ovaire (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 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
770151000241110 syndrome héréditaire de prédisposition au cancer de l'ovaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
923161000172117 syndrome héréditaire de prédisposition au cancer de l'ovaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary site-specific ovarian cancer syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) est un(e) (attribut) Familial ovarian cancer true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) est un(e) (attribut) néoplasie familiale false Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) est un(e) (attribut) tumeur maligne primaire de l'ovaire (trouble) true Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) morphologie associée (attribut) Neoplasm, malignant (primary) true Inferred relationship Some 1
Hereditary site-specific ovarian cancer syndrome (disorder) localisation d'une constatation (attribut) ovaire (structure corporelle) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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