Autosomal dominant Charcot-Marie-Tooth disease type 2
|
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2B
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2B
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2B
autosomaal dominante HMSN 2B
autosomaal dominante CMT 2B
Id717008005
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