CDKL5 deficiency disorder

Preferred Label : CDKL5 deficiency disorder;

CISMeF synonym : epileptic encephalopathy, early infantile, 2;

MeSH synonym : rett syndrome, variant, with infantile spasms; infantile spasm syndrome, X-Linked 2; rett syndrome, atypical, Cdkl5-Related; CDKL5 Disorder; Epileptic Encephalopathy, Early Infantile, 2;

Details

Origin ID

C564064;

UMLS CUI

C4750718;

Automatic exact mappings (from CISMeF team)
- cyclin dependent kinase like 5 [ORDO Gene]
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]
MeSH term(s) associated for indexing
- Epileptic Syndromes [MeSH Descriptor]
- rett syndrome [MeSH Descriptor]
- spasms, infantile [MeSH Descriptor]
Record concept(s)
- CDKL5 deficiency disorder [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CDKL5 deficiency disorder [MedDRA Preferred Term]
- Cyclin-dependent kinase-like 5 deficiency (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 2 [NCIt concept]
- Developmental and epileptic encephalopathy 2 [OMIM Phenotype]

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