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CIM11 LD2D.2

CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-11

Tuberous sclerosis

chapitre
20 Developmental anomalies
bloc
Multiple developmental anomalies or syndromes
definition
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 retar
inclusions
Bourneville disease
type
category
navigateur oms (fr)
https://icd.who.int/browse/2026-01/mms/fr#1903085809 ↗