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syndroom van autosomaal recessieve cerebellaire ataxie met saccadische intrusies (aandoening)
syndroom van autosomaal recessieve cerebellaire ataxie met saccadische intrusies
autosomaal recessieve cerebellaire ataxie met 'catch up'-saccades
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
A rare hereditary ataxia with characteristics of progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions. It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.
Id766814006
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH55
RuleTRUE
AdviceALWAYS H55
CorrelationSNOMED CT source code to target map code correlation not specified