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autosomaal recessieve spastische paraparese type 74 (aandoening)
autosomaal recessieve spastische paraparese type 74
autosomaal recessieve spastische paraplegie type 74
SPG74
Autosomal recessive spastic paraplegia type 74
A rare genetic spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder with characteristics of childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.
Id1187191003
StatusPrimitive
Clinical courseprogressief
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
SNOMED CT to Orphanet simple map468661
SNOMED CT to ICD-10 extended map
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