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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation
A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients.
autosomaal dominante motorische en sensorische neuropathie type 2 door TFG-mutatie
autosomaal dominante CMT 2 door TFG-mutatie
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door TFG-mutatie
autosomaal dominante HMSN 2 door TFG-mutatie
autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van 'trafficking from endoplasmic reticulum to golgi regulator'
Id1187566006
StatusPrimitive
Associated morphologyAtrophy
Finding siteNerve structure
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified