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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2U (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2U
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2U
autosomaal dominante HMSN 2U
autosomaal dominante CMT 2U
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS (methionyl-tRNA synthetase) mutation
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, pan modal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Id765046002
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 map397735
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified