Developmental and Epileptic Encephalopathy

Preferred Label : Developmental and Epileptic Encephalopathy;

NCIt synonyms : EIEE; Early Infantile Epileptic Encephalopathy;

NCIt definition : A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction.;

Details

Origin ID

C122814;

UMLS CUI

C5779964;

Automatic exact mappings (from CISMeF team)
- Ohtahara syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy [OMIM phenotypic series]
- Developmental and epileptic encephalopathy (disorder) [SNOMED CT concept]
- Early infantile epileptic encephalopathy [ORDO Disease]
- developmental and epileptic encephalopathy [DO Concept]
- early infantile epileptic encephalopathy [Disease (Nov.)]
- epileptic encephalopathy, early infantile, 4 [MeSH 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)
- Developmental and epileptic encephalopathy (disorder) [SNOMED CT concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH Supplementary Concept]
- Infantile epileptic dyskinetic encephalopathy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Developmental and epileptic encephalopathy 1 [OMIM Phenotype]
- Developmental and epileptic encephalopathy 4 [OMIM Phenotype]
- Early infantile epileptic encephalopathy with burst-suppression [MedDRA Preferred Term]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH Supplementary Concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH concept]
- Infantile epileptic dyskinetic encephalopathy (disorder) [SNOMED CT concept]
- Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 1 [DO Concept]
- developmental and epileptic encephalopathy 4 [DO Concept]
- early infantile epileptic encephalopathy [DO Concept]
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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