|||
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2P (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2P
autosomaal dominante HMSN type 2P
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2P
autosomaal dominante CMT type 2P
Charcot-Marie-Tooth disease type 2P
CMT2P - Charcot-Marie-Tooth disease type 2P
A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
Id782826009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
Occurrencevolwassenheid
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified