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syndroom van vroeg optredende spastische ataxie, myoklonische epilepsie en neuropathie (aandoening)
syndroom van vroeg optredende spastische ataxie, myoklonische epilepsie en neuropathie
syndroom van AFG3L2-geassocieerde spastische ataxie, myoklonische epilepsie en neuropathie
SPAX5
autosomaal recessieve spastische ataxie type 5
syndroom van vroeg optredende spastische ataxie, myoclonusepilepsie en neuropathie
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Autosomal recessive spastic ataxia type 5
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.
Id771469002
StatusPrimitive
Clinical courseprogressief
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Occurrencekinderleeftijd
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
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified