Autosomal dominant Charcot-Marie-Tooth disease type 2
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Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2C
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with the association of vocal cord anomalies, impairment of respiratory muscles, sensorineural hearing loss and weakness of hands and feet. Onset is between infancy and the sixth decade.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2C
autosomaal dominante CMT 2C
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2C
autosomaal dominante HMSN 2C
Id717010007
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