loading...| Preferred Name | Hereditary cerebral hemorrhage with amyloidosis | |
| Synonyms |
HCHWA |
|
| Definitions |
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) 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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_85458 |
|
| database_cross_reference |
ICD10:E85.4+ ICD10:I68.0* OMIM:605714 OMIM:105150 |
|
| definition |
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) 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. |
|
| definition_citation |
orphanet |
|
| has_exact_synonym |
HCHWA |
|
| label |
Hereditary cerebral hemorrhage with amyloidosis |
|
| preferred label |
Hereditary cerebral hemorrhage with amyloidosis |
|
| prefLabel |
Hereditary cerebral hemorrhage with amyloidosis |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_85458 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_85458 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_85458 | ORDO | SAME_URI | |
| http://purl.bioontology.org/ontology/SNOMEDCT/724357007 | SNOMEDCT | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_11725 | HRDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_85458 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_85458 | EFO | LOOM |