autosomaal dominante motorische en sensorische neuropathie type 2
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autosomaal dominante motorische en sensorische neuropathie type 2W (aandoening)
autosomaal dominante motorische en sensorische neuropathie type 2W
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2W
autosomaal dominante HMSN2W
autosomaal dominante CMT2W
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS (histidyl-tRNA synthetase 1) mutation
A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.
Id1172634009
StatusPrimitive
Finding sitestructuur van perifeer zenuwstelsel
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map488333
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