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autosomaal recessieve spastische paraplegie type 71 (aandoening)
autosomaal recessieve spastische paraplegie type 71
SPG71
autosomaal recessieve spastische paraparese type 71
Autosomal recessive spastic paraplegia type 71
Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.
Id782726004
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