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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, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Id719514002
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 map228179
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified