Early Myoclonic Encephalopathy

Preferred Label : Early Myoclonic Encephalopathy;

NCIt synonyms : EME;

NCIt definition : A neurologic disorder characterized by frequently recurring myoclonic seizures and other seizure types presenting within the first months of life.;

Alternative definition : NICHD: A neurological disorder characterized by recurring seizures presenting within the first months of life, characterized by frequently recurring myoclonic seizures and other seizure types.;

Details

Origin ID

C116593;

UMLS CUI

C0270855;

Automatic exact mappings (from CISMeF team)
- Early myoclonic encephalopathy [ICD-11 More detail]
- brain death [MeSH Descriptor]
- status epilepticus [MeSH Descriptor]
Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 3 [OMIM Phenotype]
- Early myoclonic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy (disorder) [SNOMED CT concept]
- early myoclonic encephalopathy [DO Concept]
- early myoclonic encephalopathy [SNOMED Notion]
- epileptic encephalopathy, early infantile, 3 [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Developmental and epileptic encephalopathy 5 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and epileptic encephalopathy 3 [OMIM Phenotype]
- Early myoclonic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 3 [DO Concept]
- early myoclonic encephalopathy [SNOMED Notion]
- epileptic encephalopathy, early infantile, 3 [MeSH Supplementary Concept]
- epileptic encephalopathy, early infantile, 3 [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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