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hereditaire distale motorische neuropathie type Jerash (aandoening)
hereditaire distale motorische neuropathie type Jerash
autosomaal recessieve distale spinale spieratrofie type 2
Distal hereditary motor neuropathy Jerash type
Autosomal recessive distal spinal muscular atrophy type 2
A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes.
Id763533003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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