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syndroom van spastische paraplegie met botziekte van Paget (aandoening)
syndroom van spastische paraplegie met botziekte van Paget
syndroom van spastische paraplegie met osteitis deformans
Spastic paraplegia with Paget disease of bone syndrome
An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease.
Id726622002
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
Finding sitebotstructuur
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetM88.99
RuleTRUE
AdviceALWAYS M88.99
CorrelationSNOMED CT source code to target map code correlation not specified