|
autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van 'trafficking from endoplasmic reticulum to golgi regulator' (aandoening)
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'
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.
Id1187566006
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map435819
SNOMED CT to ICD-10 extended map
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