autosomaal dominante 'limb-girdle' spierdystrofie
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autosomaal dominante 'limb-girdle'-spierdystrofie type 1A (aandoening)
autosomaal dominante 'limb-girdle'-spierdystrofie type 1A
LGMD1A
gordeldystrofie door myotilinedeficiëntie
'limb-girdle muscular dystrophy' door myotilinedeficiëntie
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.
Id719985001
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 map266
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified