Progressive Myoclonus Epilepsy

Preferred Label : Progressive Myoclonus Epilepsy;

NCIt definition : A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.;

Details

Origin ID

C7636;

UMLS CUI

C0751778;

CISMeF manual mappings
- Progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy, progressive [OMIM Phenotype]
- Progressive myoclonic epilepsy [ICD-11 Sub-sub category]
- Progressive myoclonic epilepsy [ORDO Disease]
- Progressive myoclonus epilepsy [PASCAL descriptor]
- myoclonic epilepsies, progressive [MeSH Descriptor]
- myoclonic epilepsies, progressive [MeSH concept]
- progressive myoclonic epilepsy [SNOMED Notion]
- progressive myoclonus epilepsy [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy [DO Concept]
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)
- Myoclonic epilepsy, progressive [OMIM Phenotype]
- Myoclonic epilepsy, progressive [HPO term]
- Progressive myoclonic epilepsy [ORDO Disease]
- Progressive myoclonic epilepsy [MedDRA Preferred Term]
- Progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- myoclonic epilepsies, progressive [MeSH concept]
- myoclonic epilepsies, progressive [MeSH Descriptor]
- progressive myoclonic epilepsy [SNOMED Notion]
- progressive myoclonus epilepsy [DO Concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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