Autosomal dominant Charcot-Marie-Tooth disease type 2
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Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
A rare axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioral abnormalities have also been reported.
autosomaal dominante motorische en sensorische neuropathie type 2Y
autosomaal dominante CMT 2 door VCP-mutatie
autosomaal dominante HMSN 2Y
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van 'valosin containing protein'
Id1187565005
StatusPrimitive
Finding sitePeripheral nervous system structure
Associated morphologyAtrophy
Finding siteNerve structure
ICD-10 complex map reference set
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