Dystonia
Epileptic encephalopathy
Hereditary disorder of nervous system
X-linked recessive hereditary disease
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Infantile epileptic dyskinetic encephalopathy (disorder)
Infantile epileptic dyskinetic encephalopathy
A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.
infantiele epileptische dyskinetische encefalopathie
Id771223000
StatusPrimitive
Finding siteExtrapyramidal system structure
Finding siteCerebrum
InterpretsMovement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified