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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2O (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2O
autosomaal dominante CMT type 2O
autosomaal dominante HMSN type 2O
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2O
A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Id782829002
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
Occurrencevroege kinderleeftijd
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified