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hereditaire distale motorische neuropathie type 5 (aandoening)
hereditaire distale motorische neuropathie type 5
distale spinale spieratrofie type 5
dHMN5
Distal hereditary motor neuropathy type 5
Distal spinal muscular atrophy type 5
Distal hereditary motor neuropathy type V
dHMN5 - distal hereditary motor neuropathy type 5
A rare autosomal dominant distal hereditary motor neuropathy disease with characteristics of muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.
Id1197152005
StatusPrimitive
SNOMED CT to Orphanet simple map139536
SNOMED CT to ICD-10 extended map
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified