|hereditaire motorische en sensorische neuropathie type 2H (aandoening)|
hereditaire motorische en sensorische neuropathie type 2H
ziekte van Charcot-Marie-Tooth type 2H
Charcot-Marie-Tooth disease type 2H
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1.
|referentieset met complexe 'mapping' naar ICD-10|
|Correlation||SNOMED CT source code to target map code correlation not specified|