autosomaal recessieve hereditaire aandoening	complicatie van centraal zenuwstelsel	epileptische encefalopathie met ontwikkelingsstoornis	hereditaire ontwikkelingsstoornis	hereditaire stoornis van metabolisme van zenuwstelsel	neonatale stoornis van metabolisme	stoornis van metabolisme van glutamine
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neonatale epileptische encefalopathie door glutaminasedeficiëntie (aandoening)
	neonatale epileptische encefalopathie door glutaminasedeficiëntie
	epileptische encefalopathie bij pasgeborene door glutaminasedeficiëntie
	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.

Id	1222662000
Status	Primitive

Due to

glutaminasedeficiëntie

Occurrence

Finding site	structuur van encephalon
Occurrence	neonataal
Pathological process	proces van pathologische ontwikkeling

SNOMED CT to Orphanet simple map

557064

SNOMED CT to ICD-10 extended map

Target	G40.3
Rule	TRUE
Advice	ALWAYS G40.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E72.8
Rule	TRUE
Advice	ALWAYS E72.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified