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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2S (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2S
LGMD2S
Autosomal recessive limb girdle muscular dystrophy type 2S
A form of limb-girdle muscular dystrophy with characteristics of childhood-onset progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly ocular features (e.g. myopia, cataract) and seizures. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the TRAPPC11 gene on chromosome 4q35.
Id732929002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified