Multisystemic smooth muscle dysfunction syndrome

Orpha code: 404463OMIM code: 613834

Definicja

Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

Disease data
Klasyfikacja

Disease

Kod ORPHA
404463
Kod OMIM
613834
Kod ICD10
I73.8
Kod ICD11
-

No additional description.

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