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hereditaire motorische en sensorische neuropathie type 2T (aandoening)
hereditaire motorische en sensorische neuropathie type 2T
HMSN 2T
autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2T
CMT 2T
Charcot-Marie-Tooth disease type 2T
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.
Id1187128001
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map495274
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