Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3737575019 | COL4A1-related familial vascular leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737576018 | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3737577010 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737578017 | COL4A1-related brain small vessel disease with hemorrhage | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737579013 | COL4A1-related brain small vessel disease with haemorrhage | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3866559019 | COL4A1-related familial vascular leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3866560012 | Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3866561011 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Intracerebral vascular finding | true | Inferred relationship | Some | ||
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Small vessel cerebrovascular disease (disorder) | true | Inferred relationship | Some | ||
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Finding site | Intracranial vascular structure | true | Inferred relationship | Some | 1 | |
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | Is a | Vascular disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR