autosomaal dominante motorische en sensorische neuropathie type 2
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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2C (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2C
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2C
autosomaal dominante HMSN 2C
autosomaal dominante CMT 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2C
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
Id717010007
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 map99937
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified