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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2L (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2L
autosomaal dominante HMSN 2L
autosomaal dominante CMT 2L
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2L
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Id719513008
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 map99945
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified