Preferred Label : Charcot-Marie-Tooth disease type 2C;
ICD-11 definition : Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal
Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by
the association of vocal cord naomalies, impairment of respiratory muscles and sensorineural
hearing loss with the distal hands and feet weakness. Onset is between infancy and
the 6th decade.;
Origin ID : 2074400987;
Automatic exact mappings (from CISMeF team)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal
Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by
the association of vocal cord naomalies, impairment of respiratory muscles and sensorineural
hearing loss with the distal hands and feet weakness. Onset is between infancy and
the 6th decade.
