autosomaal recessieve 'limb-girdle' spierdystrofie
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laminine-alfa-2-gerelateerde 'limb-girdle'-spierdystrofie type R23 (aandoening)
laminine-alfa-2-gerelateerde 'limb-girdle'-spierdystrofie type R23
laminine-alfa-2-gerelateerde LGMD R23
laminine-alfa-2-gerelateerde gordeldystrofie R23
Laminin alpha-2 related limb girdle muscular dystrophy R23
Laminin subunit alpha 2-related LGMD (limb girdle muscular dystrophy) R23
Laminin subunit alpha 2-related late-onset muscular dystrophy
Laminin subunit alpha 2-related limb girdle muscular dystrophy R23
A rare autosomal recessive limb girdle muscular dystrophy with characteristics of childhood to adult onset of slowly progressive limb girdle muscular weakness often accompanied by calf hypertrophy and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.
Id1279883006
StatusPrimitive
Clinical courseprogressief
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map565837
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