Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3499553019 | Carney triad | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3499554013 | Carney triad (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
763211000241118 | triade de Carney (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
962961000172119 | triade de Carney | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3500017013 | A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3500018015 | A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Carney triad | est un(e) (attribut) | Polyglandular dysfunction | true | Inferred relationship | Some | ||
Carney triad | est un(e) (attribut) | Neoplasm of multiple endocrine glands | true | Inferred relationship | Some | ||
Carney triad | est un(e) (attribut) | Multisystem disorder (disorder) | false | Inferred relationship | Some | ||
Carney triad | morphologie associée (attribut) | Neoplasm | true | Inferred relationship | Some | 1 | |
Carney triad | localisation d'une constatation (attribut) | Structure of multiple endocrine glands | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)