|||
mevalonacidurie (aandoening)
mevalonacidurie
mevalonaatkinasedeficiƫntie
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.
Id718558008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified