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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2O (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2O
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2O
autosomaal dominante CMT type 2O
autosomaal dominante HMSN type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2O
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.
Id782829002
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
Occurrencevroege kinderleeftijd
Clinical courseprogressief
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 map284232
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