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membraanmetallo-endopeptidase-gerelateerde autosomaal dominante motorische en sensorische neuropathie type 2 (aandoening)
membraanmetallo-endopeptidase-gerelateerde autosomaal dominante motorische en sensorische neuropathie type 2
MME-gerelateerde autosomaal dominante CMT 2
MME-gerelateerde autosomaal dominante ziekte van Charcot-Marie-Tooth type 2
MME-gerelateerde autosomaal dominante HMSN 2
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2
MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.
Id1172585006
StatusPrimitive
Clinical courseprogressief
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map497757
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