LD2D.0

ICD-11 MMS 2026-01

Peutz-Jeghers syndrome

Description

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterised by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition. Patients have an increased risk of developing intestinal cancer.

Index terms

  • Peutz-Jeghers syndrome

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.1 – Neurofibromatoses
  • LD2D.2 – Tuberous sclerosis
  • 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

Peutz-Jeghers syndrome – http://id.who.int/icd/entity/969253189

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