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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2A (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2A
autosomaal recessieve gordeldystrofie type 2A
'limb-girdle muscular dystrophy' door calpaïnedeficiëntie
primaire calpaïnopathie
LGMD2A
Autosomal recessive limb girdle muscular dystrophy type 2A
Calpain-3 deficiency limb girdle muscular dystrophy type 2A
Leyden-Möbius muscular dystrophy
Primary calpainopathy
A limb girdle muscular dystrophy characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.
Id715341003
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 map267
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified