autosomaal dominante motorische en sensorische neuropathie type 2
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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2N (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2N
autosomaal dominante CMT 2N
autosomaal dominante HMSN 2N
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2N
A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
Id719515001
StatusPrimitive
Finding sitestructuur van perifeer zenuwstelsel
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 map228174
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified