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autosomaal dominante spastische paraplegie type 12 (aandoening)
autosomaal dominante spastische paraplegie type 12
SPG12
Autosomal dominant spastic paraplegia type 12
A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13.
Id763374004
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
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