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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 subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
Id715341003
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map267
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified