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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2 door 'kinesin family member 5A'-mutatie (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2 door 'kinesin family member 5A'-mutatie
autosomaal dominante HMSN 2 door KIF5A-mutatie
autosomaal dominante CMT 2 door KIF5A-mutatie
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door KIF5A-mutatie
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation
A rare form of axonal peripheral sensorimotor neuropathy with characteristics of classical Charcot-Marie-Tooth type 2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
Id764730007
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map324611
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified