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hereditaire motorische en sensorische neuropathie type 2H (aandoening)
hereditaire motorische en sensorische neuropathie type 2H
AR-HMSN 2H
AR-CMT 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.
Id720637005
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified