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Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)
Autosomal dominant limb girdle muscular dystrophy type 1A
Limb-girdle muscular dystrophy 1A myotilin myopathy
Limb girdle muscular dystrophy due to myotilin deficiency
A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria.
autosomaal dominante 'limb-girdle'-spierdystrofie type 1A
LGMD1A
gordeldystrofie door myotilinedeficiëntie
'limb-girdle muscular dystrophy' door myotilinedeficiëntie
Id719985001
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified