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autosomaal recessieve spastische paraplegie type 69 (aandoening)
autosomaal recessieve spastische paraplegie type 69
autosomaal recessieve spastische paraparese type 69
SPG69
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
Id782725000
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