Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3649886019 | FRAM - familial retinal arterial macroaneurysm | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3649887011 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649888018 | RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3649889014 | Familial retinal arterial macroaneurysm | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649890017 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649615013 | Syndrome with characteristics of macroaneurysms of retina which may rupture causing bleeding and loss of vision, in association with supravalvular pulmonic stenosis. The disease is caused by a mutation in the IGFBP7 (insulin-like growth factor-binding protein 7) gene which is active in the vascular endothelium. The IGFBP7 gene mutation results in an abnormally short IGFBP7 protein that does not function properly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4129281000052118 | retinalt arteriellt makroaneurysm med supravalvulär pulmonalstenos | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital supravalvular pulmonary stenosis | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Familial disease | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Retinal macroaneurysm | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital peripheral aneurysm | false | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital aneurysm of systemic artery (disorder) | false | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Finding site | Structure of retinal artery | true | Inferred relationship | Some | 3 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Associated morphology | Aneurysm | true | Inferred relationship | Some | 2 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Finding site | Structure of retinal artery | true | Inferred relationship | Some | 2 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Finding site | Suprapulmonic valve area structure | true | Inferred relationship | Some | 1 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Associated morphology | Stenosis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Associated morphology | Macroaneurysm (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital anomaly of retina | false | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital stenosis of pulmonary artery (disorder) | false | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital vascular anomaly of eye | false | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital abnormality of pulmonary trunk (disorder) | false | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital retinal aneurysm | true | Inferred relationship | Some | ||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR