Lafora Disease

Preferred Label : Lafora Disease;

NCIt definition : A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.;

Details

Origin ID

C84804;

UMLS CUI

C0751783;

Currated CISMeF NLP mapping
- Lafora disease [Disease (Nov.)]
- Lafora disease [DO Concept]
- Lafora disease [ORDO Disease]
- Lafora disease (disorder) [SNOMED CT concept]
- Lafora's disease [MedDRA LLT]
- Lafora's myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy of lafora [OMIM Phenotype]
- Progressive myoclonic epilepsy type 2 [ICD-11 More detail]
- lafora disease [MeSH Descriptor]
- lafora disease [MeSH concept]
- progressive myoclonic epilepsy [SNOMED Notion]
DO Cross reference
- Lafora disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lafora disease [ORDO Disease]
- Lafora disease [DO Concept]
- Lafora disease [Disease (Nov.)]
- Lafora disease (disorder) [SNOMED CT concept]
- Lafora's disease [MedDRA LLT]
- Lafora's myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy of lafora [OMIM Phenotype]
- lafora disease [MeSH concept]
- lafora disease [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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