Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5483231011 | X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483233014 | X-linked severe syndromic thoracic aortic aneurysm and dissection | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483234015 | Meester Loeys syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483235019 | X-linked severe syndromic TAAD (thoracic aortic aneurysm and dissection) | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483230012 | A rare genetic systemic syndrome characterised by early-onset aortic aneurysm (involving the aortic root/ more distal ascending aorta) and dissection. Mild mitral or aortic insufficiency may also be present. Majority of the patients present with variable facial dysmorphism including frontal bossing, hypertelorism, downslanting palpebral fissures, proptosis and malar hypoplasia. Additional clinical features may include joint hypermobility, contractures, and mild skeletal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483232016 | A rare genetic systemic syndrome characterized by early-onset aortic aneurysm (involving the aortic root/ more distal ascending aorta) and dissection. Mild mitral or aortic insufficiency may also be present. Majority of the patients present with variable facial dysmorphism including frontal bossing, hypertelorism, downslanting palpebral fissures, proptosis and malar hypoplasia. Additional clinical features may include joint hypermobility, contractures, and mild skeletal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Is a | Aneurysm of thoracic aorta (disorder) | true | Inferred relationship | Some | ||
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 2 | |
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Finding site | Thoracic aorta structure | true | Inferred relationship | Some | 1 | |
| X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder) | Associated morphology | Aneurysm | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR