Autosomal dominant Charcot-Marie-Tooth disease type 2
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Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2M
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2M
autosomaal dominante HMSN 2M
autosomaal dominante CMT 2M
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2M
Id719514002
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