autosomaal recessieve hereditaire aandoening	mevalonaatkinasedeficiëntie
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mevalonacidurie (aandoening)
	mevalonacidurie
	Mevalonic aciduria
	Complete mevalonate kinase deficiency
	A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

Id	718558008
Status	Primitive

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

29

SNOMED CT to ICD-10 extended map

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified