LD2D.2

ICD-11 MMS 2026-01

Tuberous sclerosis

Description

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.

Index terms

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

Inclusions

  • Bourneville disease

Exclusions from above levels

  • 2E83.Z – Enchondromatosis
  • 4A01.31 – Ataxia-telangiectasia
  • 8C21.1 – familial dysautonomia [Riley-Day]
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  • LA90.00 – Rendu-Osler-Weber disease
  • LD23 – Sturge-Weber syndrome
  • LD26.60 – Angio-osteohypertrophic syndrome
  • LD2C – Proteus syndrome
  • LD2F.1Y – Maffucci syndrome
  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD2D.0 – Peutz-Jeghers syndrome
  • LD2D.1 – Neurofibromatoses
  • LD2D.3 – Gardner syndrome
  • LD2D.4 – Gorlin syndrome
  • LD2D.Y – Other specified phakomatoses or hamartoneoplastic syndromes
  • LD2D.Z – Phakomatoses or hamartoneoplastic syndromes, unspecified

Foundation entity

Tuberous sclerosis – http://id.who.int/icd/entity/1903085809

Part of: LD2D: Phakomatoses or hamartoneoplastic syndromes › 20: Developmental anomalies