3-Methylglutaconic aciduria	Autosomal recessive hereditary disorder	Developmental hereditary disorder	Global developmental delay	Severe intellectual disability
\|	\|	\|	\|	\|

3-methylglutaconic aciduria type 9 (disorder)
	3-methylglutaconic aciduria type 9
	3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome
	A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.

Id	1222672002
Status	Primitive

Pathological process

Pathological developmental process

ICD-10 complex map reference set

Target	E71.1
Rule	TRUE
Advice	ALWAYS E71.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified