Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434554013 | Hereditary cerebral hemorrhage with amyloidosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434555014 | Hereditary cerebral haemorrhage with amyloidosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434556010 | HCHWA - hereditary cerebral hemorrhage with amyloidosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434557018 | HCHWA - hereditary cerebral haemorrhage with amyloidosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 904181000172117 | hémorragie cérébrale héréditaire avec amylose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 989451000172116 | HCHWA - hereditary cerebral hemorrhage with amyloidosis | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 2161591000172111 | hémorragie cérébrale héréditaire avec amyloïdose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 974201000172114 | erfelijke cerebrale hemorragie met amyloïdose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1009791000172111 | HCHWA - hereditary cerebral hemorrhage with amyloidosis | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 2161581000172113 | erfelijke cerebrale bloeding met amyloïdose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 2161601000172118 | hereditaire cerebrale amyloïdangiopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Cerebrovascular amyloidosis | false | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Cerebral amyloid angiopathy | false | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Localised hereditary amyloidosis | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Cardiovascular system hereditary disorder | false | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Associated morphology | Focal amyloid | false | Inferred relationship | Some | 2 | |
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Finding site | Cerebrovascular system structure | false | Inferred relationship | Some | 2 | |
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Hereditary amyloidosis (disorder) | false | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Hereditary cerebrovascular amyloidosis | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Chronic disease of cardiovascular system | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Disorder of the central nervous system (disorder) | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Associated morphology | Focal amyloid | true | Inferred relationship | Some | 1 | |
| Hereditary cerebral hemorrhage with amyloidosis (disorder) | Finding site | Cerebrovascular system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary cerebral amyloid angiopathy, Icelandic type | Is a | True | Hereditary cerebral hemorrhage with amyloidosis (disorder) | Inferred relationship | Some | |
| Hereditary cerebral amyloid angiopathy, Dutch type | Is a | True | Hereditary cerebral hemorrhage with amyloidosis (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR