Epilepsy with neurodevelopmental defects

Preferred Label : Epilepsy with neurodevelopmental defects;

Obsolete resource : true;

Moved to : 245570;

Alternative titles and symbols : Epnd;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ionotropic n-methyl-d-aspartate glutamatereceptor subunit 2a gene (grin2a, 138253.0001);

Prefixed ID : 613971;

Details

Origin ID

613971;

Currated CISMeF NLP mapping
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation [ICD-11 More detail]
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation [ORDO Disease]
- Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) [SNOMED CT concept]
ORDO concept(s)
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation [ORDO Disease]
See also inter- (CISMeF)
- GRIN2A wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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