autosomaal dominante motorische en sensorische neuropathie type 2
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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2J (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2J
autosomaal dominante CMT 2J
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2J
autosomaal dominante HMSN 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2J
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Relatively late onset papillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy.
Id717014003
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 map99943
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified