autosomaal dominante 'limb-girdle' spierdystrofie
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calpaïne-3-gerelateerde 'limb-girdle'-spierdystrofie type D4 (aandoening)
calpaïne-3-gerelateerde 'limb-girdle'-spierdystrofie type D4
calpaïne-3-gerelateerde LGMD D4
calpaïne-3-gerelateerde gordeldystrofie D4
Calpain-3-related limb girdle muscular dystrophy D4
Limb girdle muscular dystrophy type D4
A rare autosomal dominant limb girdle muscular dystrophy with characteristics of adult onset of proximal muscle weakness, pain and wasting predominantly affecting the proximal leg, lumbar paraspinal and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often but not always elevated and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable although most patients remain ambulatory.
Id1279886003
StatusPrimitive
Clinical courseprogressief
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencevolwassenheid
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map565909
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