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Spastic ataxia with congenital miosis (disorder)
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.
spastische ataxie met congenitale miose
syndroom van spastische ataxie en congenitale miose
Id763669001
StatusPrimitive
Associated morphologyCongenital smallness
Finding sitePupil structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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