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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2F (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2F
autosomaal dominante HMSN 2F
autosomaal dominante CMT 2F
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2F
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop.
Id719510006
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map99940
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified