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autosomaal recessieve spastische paraplegie type 67 (aandoening)
autosomaal recessieve spastische paraplegie type 67
Autosomal recessive spastic paraplegia type 67
An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
Id766767001
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified