autosomaal recessieve motorische en sensorische neuropathie type 2
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hereditaire motorische en sensorische neuropathie type 2S (aandoening)
hereditaire motorische en sensorische neuropathie type 2S
ziekte van Charcot-Marie-Tooth type 2S
HMSN 2S
CMT 2S
Charcot-Marie-Tooth disease type 2S
A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.
Id1187617004
StatusPrimitive
Finding sitestructuur van perifeer zenuwstelsel
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map443073
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