autosomaal recessieve 'limb-girdle' spierdystrofie
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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 characterized by an 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.
Id725043006
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.0
TermSpierdystrofie
SNOMED CT to Orphanet simple map206564
SNOMED CT to ICD-10 extended map
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