Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. 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 |
| 6361291000146112 | hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6361301000146111 | erfelijk plaatsspecifiek eierstokkankersyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6361311000146113 | hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Is a | Reproductive system hereditary disorder | false | Inferred relationship | Some | ||
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Is a | Familial neoplastic disease | false | Inferred relationship | Some | ||
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Is a | Primary malignant neoplasm of ovary | false | Inferred relationship | Some | ||
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Associated morphology | primair maligne neoplasma (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Finding site | Ovarian structure | false | Inferred relationship | Some | 1 | |
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Is a | Hereditary disorder of endocrine system (disorder) | false | Inferred relationship | Some | ||
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Is a | Familial ovarian cancer | false | Inferred relationship | Some | ||
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Associated morphology | Malignant neoplasm (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| hereditair ovariumcarcinoomsyndroom met gespecificeerde lokalisatie | Pathological process (attribute) | Malignant proliferation of primary neoplasm (qualifier value) | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR