autosomaal recessieve 'limb-girdle' spierdystrofie
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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2E (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2E
LGMD2E
autosomaal recessieve gordeldystrofie type 2E
'limb-girdle muscular dystrophy' door bèta-sarcoglycaandeficiëntie
bèta-sarcoglycanopathie
Autosomal recessive limb girdle muscular dystrophy type 2E
Limb girdle muscular dystrophy due to beta-sarcoglycan deficiency
Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy with characteristics of limb-girdle weakness, particularly of the pelvic girdle muscles.
Id718850008
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 map119
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified