congenitale spierdystrofie type 1B (aandoening)
congenitale spierdystrofie type 1B
Congenital muscular dystrophy type 1B
A rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified