||||||||
spastische ataxie met congenitale miose (aandoening)
spastische ataxie met congenitale miose
syndroom van spastische ataxie en congenitale miose
Spastic ataxia with congenital miosis
Autosomal dominant spastic ataxia type 7
A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present.
Id763669001
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van pupil
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH57.0
RuleTRUE
AdviceALWAYS H57.0
CorrelationSNOMED CT source code to target map code correlation not specified