Cerebral Amyloid Angiopathy, APP-Related

Preferred Label : Cerebral Amyloid Angiopathy, APP-Related;

NCIt synonyms : HCHWAD; Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch Type;

NCIt definition : An autosomal dominant form of cerebral amyloid angiopathy caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The deposition of amyloid in cerebral blood vessels wall may lead to degenerative vascular changes that may result in cerebral hemorrhage. Mutation(s) in the APP gene may also cause autosomal dominant Alzheimer disease 1.;

Détails

Origin ID

C157147;

UMLS CUI

C2751536;

Currated CISMeF NLP mapping
- ABeta amyloidosis, Dutch type [ORDO Disease]
- APP-related cerebral amyloid angiopathy [DO Concept]
- Amyloidosis, Cerebroarterial, App-Related [MeSH Supplementary Concept]
- Amyloidosis, Cerebroarterial, App-Related [MeSH concept]
- Cerebral amyloid angiopathy, app-related [OMIM Phenotype]
- Hereditary cerebral amyloid angiopathy, Dutch type (disorder) [SNOMED CT concept]
- hereditary cerebral amyloid angiopathy, dutch type [SNOMED Notion]
Has associated anatomic sites
- Brain [NCIt concept]
- Cardiovascular System [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- APP-related cerebral amyloid angiopathy [DO Concept]
- Amyloidosis, Cerebroarterial, App-Related [MeSH Supplementary Concept]
- Cerebral amyloid angiopathy, app-related [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Cardiovascular System [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
- Vascular System [NCIt concept]
disease_mapped_to_gene
- APP Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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