Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3434553019 | Hereditary cerebral hemorrhage with amyloidosis (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3434554013 | Hereditary cerebral hemorrhage with amyloidosis | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3434555014 | Hereditary cerebral haemorrhage with amyloidosis | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3434556010 | HCHWA - hereditary cerebral hemorrhage with amyloidosis | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3434557018 | HCHWA - hereditary cerebral haemorrhage with amyloidosis | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3434558011 | Describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3434559015 | Describes a group of rare familial central nervous system disorders characterised by amyloid deposition in the cerebral blood vessels leading to haemorrhagic and non-haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Hereditary cerebrovascular amyloidosis | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Chronic disease of cardiovascular system | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Disorder of the central nervous system | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Chronic nervous system disorder | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Hereditary cerebral haemorrhage with amyloidosis | Finding site | Structure of central nervous system | true | Inferred relationship | Some | 3 | |
| Hereditary cerebral haemorrhage with amyloidosis | Associated morphology | Focal amyloid | true | Inferred relationship | Some | 1 | |
| Hereditary cerebral haemorrhage with amyloidosis | Finding site | Cerebrovascular system structure | true | Inferred relationship | Some | 1 | |
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Cerebrovascular amyloidosis | false | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Cerebral amyloid angiopathy | false | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Localised hereditary amyloidosis | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Cardiovascular system hereditary disorder | false | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hereditary cerebral haemorrhage with amyloidosis | Associated morphology | Focal amyloid | false | Inferred relationship | Some | 2 | |
| Hereditary cerebral haemorrhage with amyloidosis | Finding site | Cerebrovascular system structure | false | Inferred relationship | Some | 2 | |
| Hereditary cerebral haemorrhage with amyloidosis | Is a | Hereditary amyloidosis | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary cerebral amyloid angiopathy, Icelandic type | Is a | True | Hereditary cerebral haemorrhage with amyloidosis | Inferred relationship | Some | |
| Hereditary cerebral amyloid angiopathy, Dutch type | Is a | True | Hereditary cerebral haemorrhage with amyloidosis | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR