Myoclonic-Atonic Epilepsy

Preferred Label : Myoclonic-Atonic Epilepsy;

NCIt synonyms : MAE; Myoclonic-Atonic Seizure; Myoclonic-Astatic Epilepsy; Doose Syndrome;

NCIt definition : A genetically heterogenous condition characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures.;

Details

Origin ID

C165674;

UMLS CUI

C0393702;

Automatic exact mappings (from CISMeF team)
- Myoclonic-astatic epilepsy [ORDO Disease]
- anticonvulsants [MeSH Descriptor]
Currated CISMeF NLP mapping
- Myoclonic-atonic epilepsy [OMIM Phenotype]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Doose syndrome [MedDRA LLT]
- Epilepsy with myoclonic-atonic seizures [MedDRA Preferred Term]
- Epilepsy with myoclonic-atonic seizures (disorder) [SNOMED CT concept]
- Generalized myoclonic-atonic seizure [HPO term]
- Myoclonic-astatic epilepsy [ORDO Disease]
- Myoclonic-astatic epilepsy [MedDRA LLT]
- Myoclonic-atonic epilepsy [OMIM Phenotype]
- myoclonic astatic epilepsy [MeSH concept]
- myoclonic astatic epilepsy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

Keyword's position in hierarchy(ies) :

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