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autosomaal dominante congenitale benigne spinale spieratrofie (aandoening)
autosomaal dominante congenitale benigne spinale spieratrofie
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant benign distal spinal muscular atrophy
Congenital nonprogressive spinal muscular atrophy
Congenital benign spinal muscular atrophy with contracture
A rare distal hereditary motor neuropathy with a variable clinical phenotype and typical characteristics of congenital, non-progressive, predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.
Id763067000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG12.1
RuleTRUE
AdviceALWAYS G12.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified