Chronic metabolic disorder	Chronic nervous system disorder	Deficiency of dehydrogenase	Disorder of isoleucine metabolism	Disorder of the central nervous system	Hereditary disorder of nervous system	Hereditary metabolic disease	X-linked dominant hereditary disease
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2-methyl-3-hydroxybutyric aciduria (disorder)
	2-methyl-3-hydroxybutyric aciduria
	HSD10 disease
	A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
	2-methyl-3-hydroxybutaanzuuracidurie
	HSD10-ziekte 2-methyl-3-hydroxybutyryl-CoA-dehydrogenasedeficiëntie MHBD-deficiëntie

Id	791000124107
Status	Primitive

Clinical course

Finding site

Structure of central nervous system

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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