autosomaal recessieve motorische en sensorische neuropathie type 2
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hereditaire motorische en sensorische neuropathie type 2R (aandoening)
hereditaire motorische en sensorische neuropathie type 2R
ziekte van Charcot-Marie-Tooth type 2R
Charcot-Marie-Tooth disease type 2R
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.
Id774147002
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
Finding sitestructuur van perifeer zenuwstelsel
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 map397968
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