Autosomal recessive hereditary disorder	Autosomal recessive hereditary disorder	Deficiency of mevalonate kinase	Deficiency of mevalonate kinase	Hereditary metabolic disease
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Mevalonic aciduria (disorder)
	Mevalonic aciduria
	Complete mevalonate kinase deficiency
	A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
	mevalonacidurie
	mevalonaatkinasedeficiëntie

Id	718558008
Status	Primitive

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8
Correlation	SNOMED CT source code to target map code correlation not specified