epilepsy, Female-Restricted, with mental retardation

Preferred Label : epilepsy, Female-Restricted, with mental retardation;

MeSH note : mutation in PCDH19;

MeSH synonym : convulsive disorder and mental retardation;

Details

Origin ID

C564715;

UMLS CUI

C1848137;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 9 [OMIM Phenotype]
- Female restricted epilepsy with intellectual disability [ORDO Disease]
- Female restricted epilepsy with intellectual disability syndrome (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 9 [DO Concept]
- epilepsy in females with mental retardation [Disease (Nov.)]
MeSH term(s) associated for indexing
- epilepsy [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- epilepsy, Female-Restricted, with mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 9 [NCIt concept]
- Developmental and epileptic encephalopathy 9 [OMIM Phenotype]
- Female restricted epilepsy with intellectual disability [ORDO Disease]

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