Autosomal dominant Charcot-Marie-Tooth disease type 2
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Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2L
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2L
autosomaal dominante HMSN 2L
autosomaal dominante CMT 2L
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2L
Id719513008
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