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LD2D.2 Tuberous sclerosis

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.

inclusions

• Bourneville disease

code elsewhere

• Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis  (LD2F.1Y)

synonyms

• Tuberous sclerosis
• Epiloia
• Bourneville disease
• Bourneville phakomatosis
• Pringle's disease
• Angiomyolipomatosis and isolated cysts associated with tuberous sclerosis

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