autosomaal recessieve 'limb-girdle' spierdystrofie
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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2G (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2G
LGMD2G
'limb-girdle muscular dystrophy' door telethoninedeficiëntie
autosomaal recessieve gordeldystrofie type 2G
Autosomal recessive limb girdle muscular dystrophy type 2G
Limb girdle muscular dystrophy due to telethonin deficiency
A mild form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement.
Id720522001
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 map34514
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified