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spastische paraplegie, opticusatrofie, neuropathie en aan spastische paraplegie, opticusatrofie en neuropathie-gerelateerde aandoening (aandoening)
spastische paraplegie, opticusatrofie, neuropathie en aan spastische paraplegie, opticusatrofie en neuropathie-gerelateerde aandoening
SPOAN en SPOAN-gerelateerde aandoening
syndroom van spastische paraplegie, opticusatrofie en neuropathie en hieraan gerelateerde aandoening
SPOAN and SPOAN-related disorder
Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.
Id789674008
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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