Autosomal recessive hereditary disorder	Congenital anomaly of cerebrum	Developmental hereditary disorder	Epileptic encephalopathy	Hereditary disorder of nervous system	Hereditary metabolic disease	Mitochondrial cytopathy
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Epileptic encephalopathy with global cerebral demyelination (disorder)
	Epileptic encephalopathy with global cerebral demyelination
	Mitochondrial aspartate-glutamate carrier 1 deficiency
	A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
	epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie

Id	726702005
Status	Primitive

Associated morphology	Hypomyelination
Finding site	Cerebrum
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified