Developmental and Epileptic Encephalopathy 2

Preferred Label : Developmental and Epileptic Encephalopathy 2;

NCIt synonyms : EIEE2; DEE2; Early Infantile Epileptic Encephalopathy 2; CDKL5 Deficiency Disorder;

NCIt related terms : Cyclin-Dependent Kinase-Like 5 Deficiency Disorder;

NCIt definition : An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the CDKL5 gene, encoding cyclin-dependent kinase-like 5.;

Codes from synonyms : G40.42;

Details

Origin ID

C147070;

UMLS CUI

C4750718;

Automatic exact mappings (from CISMeF team)
- Dravet syndrome [ORDO Disease]
- Dravet syndrome [PASCAL descriptor]
- Dravet syndrome [MedDRA LLT]
- Dravet syndrome [DO Concept]
- Dravet syndrome [DO Concept]
- Dravet syndrome [ICD-11 Sub-sub category]
- Severe myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- cyclin dependent kinase like 5 [ORDO Gene]
- epilepsies, myoclonic [MeSH Descriptor]
- epilepsy, myoclonic, infantile, severe [MeSH concept]
Currated CISMeF NLP mapping
- CDKL5 deficiency disorder [MeSH Supplementary Concept]
- CDKL5 deficiency disorder [MeSH concept]
- CDKL5 deficiency disorder [MedDRA Preferred Term]
- CDKL5-deficiency disorder [ORDO Disease]
- Cyclin-dependent kinase-like 5 deficiency (disorder) [SNOMED CT concept]
- Developmental and epileptic encephalopathy 2 [OMIM Phenotype]
- developmental and epileptic encephalopathy 2 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Dravet syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CDKL5 deficiency disorder [MeSH Supplementary Concept]
- CDKL5 deficiency disorder [MeSH concept]
- CDKL5 deficiency disorder [MedDRA Preferred Term]
- Cyclin-dependent kinase-like 5 deficiency (disorder) [SNOMED CT concept]
- Developmental and epileptic encephalopathy 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- mCode Elixhauser Neurological Seizure Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- CDKL5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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