" /> Tuberous sclerosis - CISMeF





ICD-11 code : LD2D.2;

Preferred Label : Tuberous sclerosis;

ICD-11 definition : A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumors, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tuber or retinal hamartoma, epilepsy, or mental retardation.;

ICD-11 synonym : Bourneville disease; Bourneville phakomatosis; Epiloia;

CISMeF acronym : EPILOIA;

ICD-11 inclusion : Pringle's disease; Bourneville disease;

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

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31/07/2025


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