Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3737574015 | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3737575019 | COL4A1-related familial vascular leukoencephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3737576018 | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3737577010 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3737578017 | COL4A1-related brain small vessel disease with hemorrhage | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3737579013 | COL4A1-related brain small vessel disease with haemorrhage | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3866559019 | COL4A1-related familial vascular leucoencephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3866560012 | Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3866561011 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3737580011 | A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3737581010 | A rare genetic neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent hemorrhagic and/or ischemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| COL4A1-related familial vascular leucoencephalopathy | Is a | Intracerebral vascular finding | true | Inferred relationship | Some | ||
| COL4A1-related familial vascular leucoencephalopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| COL4A1-related familial vascular leucoencephalopathy | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| COL4A1-related familial vascular leucoencephalopathy | Is a | Small vessel cerebrovascular disease | true | Inferred relationship | Some | ||
| COL4A1-related familial vascular leucoencephalopathy | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
| COL4A1-related familial vascular leucoencephalopathy | Finding site | Intracranial vascular structure | true | Inferred relationship | Some | 1 | |
| COL4A1-related familial vascular leucoencephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| COL4A1-related familial vascular leucoencephalopathy | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| COL4A1-related familial vascular leucoencephalopathy | Is a | Vascular disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR