Autosomal recessive hereditary disorder
Central nervous system complication
Disorder of glutamine metabolism
Epileptic encephalopathy
Inherited metabolic disorder of nervous system
Neonatal metabolic disorder
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Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)
Neonatal epileptic encephalopathy due to glutaminase deficiency
Neonatal epileptic encephalopathy due to deficiency of glutaminase
A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
Id1222662000
StatusPrimitive
Due toDeficiency of glutaminase
OccurrenceCongenital
Finding siteCerebrum
OccurrenceNeonatal
ICD-10 complex map reference set
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified