CDKL5 deficiency disorder

Preferred Label : CDKL5 deficiency disorder;

CISMeF synonym : epileptic encephalopathy, early infantile, 2;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564364;

UMLS CUI

C1839333;

Currated CISMeF NLP mapping
- 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 [NCIt concept]
- Developmental and epileptic encephalopathy 2 [OMIM Phenotype]
- developmental and epileptic encephalopathy 2 [DO Concept]
Related record
- CDKL5 deficiency disorder [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 2 [NCIt concept]
- Developmental and epileptic encephalopathy 2 [OMIM Phenotype]

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