autosomaal dominante motorische en sensorische neuropathie type 2
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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2M (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2M
autosomaal dominante CMT 2M
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2M
autosomaal dominante HMSN 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2M
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia.
Id719514002
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 map228179
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified