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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2O (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2O
LGMD2O
Autosomal recessive limb girdle muscular dystrophy type 2O
Limb-girdle muscular dystrophy 2O POMGNT1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation
Limb-girdle muscular dystrophy 2O POMGNT1 gene mutation
A form of limb-girdle muscular dystrophy with onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures and myopia. Caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
Id725043006
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