loading...| Preferred Name | cerebral amyloid angiopathy | |
| Synonyms |
CAA, familial cerebral amyloid angiopathy, familial cerebral amyloid angiopathy, genetic cerebral amyloid angiopathy hereditary cerebral haemorrhage with amyloidosis - Dutch type hereditary cerebral hemorrhage with amyloidosis - Dutch type dutch hereditary cerebral amyloid angiopathy CAA HCHWA |
|
| Definitions |
A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain. 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.ebi.ac.uk/efo/EFO_0006790 |
|
| database_cross_reference |
MedDRA:10068044 SNOMEDCT:230724001 ICD10EXP:E85.4+ ICD10CM:I68.0 MONDO:0005620 ICD10EXP:I68.0* MEDGEN:267610 MESH:D016657 Orphanet:85458 NCIt:C84625 ICD9:277.39 UMLS:C1510489 NCIT:C84625 MeSH:D016657 SCTID:230724001 DOID:9246 GARD:10266 |
|
| definition |
A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain. 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. |
|
| gwas_trait |
true |
|
| has_exact_synonym |
cerebral amyloid angiopathy hereditary cerebral haemorrhage with amyloidosis - Dutch type hereditary cerebral hemorrhage with amyloidosis - Dutch type dutch hereditary cerebral amyloid angiopathy CAA HCHWA |
|
| has_related_synonym |
CAA, familial cerebral amyloid angiopathy, familial cerebral amyloid angiopathy, genetic |
|
| id |
EFO:0006790 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
cerebral amyloid angiopathy |
|
| notation |
EFO:0006790 |
|
| preferred label |
cerebral amyloid angiopathy |
|
| prefLabel |
cerebral amyloid angiopathy |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84625 http://identifiers.org/snomedct/230724001 http://purl.obolibrary.org/obo/EFO_0006790 http://purl.obolibrary.org/obo/DOID_9246 http://purl.bioontology.org/ontology/ICD10CM/I68.0 http://identifiers.org/medgen/267610 http://identifiers.org/mesh/D016657 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018634 http://www.ebi.ac.uk/efo/EFO_0003763 |