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syndroom van verstandelijke beperking, hyperkinesie en rompataxie (aandoening)
syndroom van verstandelijke beperking, hyperkinesie en rompataxie
syndroom van mentale retardatie, hyperkinesie en rompataxie
syndroom van verstandelijke handicap, hyperkinesie en rompataxie
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
Id787174003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG25.5
RuleTRUE
AdviceALWAYS G25.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified