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hereditaire motorische en sensorische neuropathie Okinawa-type (aandoening)
hereditaire motorische en sensorische neuropathie Okinawa-type
Hereditary motor and sensory neuropathy Okinawa type
Hereditary motor and sensory neuropathy proximal type
Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
Id715665006
StatusPrimitive
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 map90117
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