Autosomal dominant Charcot-Marie-Tooth disease type 2
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Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2E
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2E
autosomaal dominante CMT 2E
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2E
autosomaal dominante HMSN 2E
Id717012004
StatusPrimitive
Finding sitePeripheral nervous system structure
Associated morphologyAtrophy
Finding siteNerve structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified