Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3649886019 | FRAM - familial retinal arterial macroaneurysm | en | Synonym | Active | Case sensitive | SNOMED CT core |
3649887011 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | en | Synonym | Active | Case insensitive | SNOMED CT core |
3649888018 | RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis | en | Synonym | Active | Case sensitive | SNOMED CT core |
3649889014 | Familial retinal arterial macroaneurysm | en | Synonym | Active | Case insensitive | SNOMED CT core |
3649890017 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Associated morphology | Macroaneurysm | 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 | 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 | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital abnormality of pulmonary trunk | 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 | ||
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 | true | Inferred relationship | Some | ||
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Is a | Congenital aneurysm of systemic artery | 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 | true | Inferred relationship | Some | 1 | |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set