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syndroom van parkinsonisme met vroege debuutleeftijd en verstandelijke beperking (aandoening)
syndroom van parkinsonisme met vroege debuutleeftijd en verstandelijke beperking
syndroom van vroeg beginnend parkinsonisme en verstandelijke beperking
Early onset parkinsonism and intellectual disability syndrome
Laxova Opitz syndrome
Waisman syndrome
A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
Id716107009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG20
RuleTRUE
AdviceALWAYS G20
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified