Alexander Disease

Preferred Label : Alexander Disease;

NCIt definition : A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.;

Details

Origin ID

C84545;

UMLS CUI

C0270726;

Automatic exact mappings (from CISMeF team)
- Alexander disease [ACR pathology]
DO Cross reference
- Alexander disease [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alexander disease [ORDO Disease]
- Alexander disease [OMIM Phenotype]
- Alexander disease [PASCAL descriptor]
- Alexander disease [DO Concept]
- Alexander disease [Disease (Nov.)]
- Alexander disease [MedDRA Preferred Term]
- Alexander's disease (disorder) [SNOMED CT concept]
- alexander disease [MeSH concept]
- alexander disease [MeSH Descriptor]
- alexander's disease [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GFAP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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