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autosomaal recessieve spastische paraplegie type 21 (aandoening)
autosomaal recessieve spastische paraplegie type 21
syndroom van Mast
SPG21
Autosomal recessive spastic paraplegia type 21
Mast syndrome
A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
Id764734003
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