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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2U (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2U
LGMD2U
autosomaal recessieve gordeldystrofie type 2U
autosomaal recessieve 'limb-girdle muscular dystrophy' type 2U
Autosomal recessive limb girdle muscular dystrophy type 2U
Autosomal recessive limb girdle muscular dystrophy due to ISPD deficiency
LGMD2U - autosomal recessive limb girdle muscular dystrophy type 2U
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.
Id783554002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
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