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autosomaal dominante motorische en sensorische neuropathie type 2V (aandoening)
autosomaal dominante motorische en sensorische neuropathie type 2V
autosomaal dominante CMT 2 door NAGLU-mutatie
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van N-acetyl-alfaglucosaminidase
autosomaal dominante HMSN 2V
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Hereditary adult onset painful axonal polyneuropathy
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation
A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.
Id1187618009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map447964
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