|||
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
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by 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.
Id782826009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
Occurrencevolwassenheid
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 map300319
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