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 |
| 760501000241110 | hémorragie cérébrale héréditaire avec amylose (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 904181000172117 | hémorragie cérébrale héréditaire avec amylose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 989451000172116 | HCHWA - hereditary cerebral hemorrhage with amyloidosis | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary cerebral amyloid angiopathy, Icelandic type | est un(e) (attribut) | True | Hereditary cerebral hemorrhage with amyloidosis (disorder) | Inferred relationship | Some | |
| Hereditary cerebral amyloid angiopathy, Dutch type (disorder) | est un(e) (attribut) | True | Hereditary cerebral hemorrhage with amyloidosis (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR