3-Methylglutaconic aciduria type 4	Auditory system hereditary disorder	Congenital sensorineural hearing loss	Developmental hereditary disorder	Disorder of mitochondrial respiratory chain complexes	Disorder of sensory function	Inherited metabolic disorder of nervous system
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3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
	MEGDEL syndrome
	A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.
	3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom
	MEGDEL-syndroom

Id	711409002
Status	Primitive

Finding site	Structure of nervous system
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of auditory system
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E71.1
Rule	TRUE
Advice	ALWAYS E71.1
Correlation	SNOMED CT source code to target map code correlation not specified