LD24.10

ICD-11 MMS 2026-01

Osteopetrosis

Description

Osteopetrosis ('marble bone disease') is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterised by increased bone density on radiographs. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (as in classical or 'malignant' autosomal recessive osteopetrosis) to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis).

Index terms

  • Osteopetrosis
  • ivory bones
  • marble bone disease
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  • marble bones
  • Autosomal dominant osteopetrosis type 1
  • Autosomal dominant osteopetrosis type 2
  • Albers-Schönberg disease
  • Albers-Schönberg osteopetrosis
  • Albers-Schönberg syndrome
  • Autosomal recessive malignant osteopetrosis
  • Osteopetrosis with renal tubular acidosis
  • Infantile osteopetrosis with neuroaxonal dysplasia
  • Osteomesopyknosis
  • Intermediate osteopetrosis

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD24.11 – Osteopoikilosis
  • LD24.1Y – Other specified bone diseases with increased bone density
  • LD24.1Z – Bone diseases with increased bone density, unspecified

Foundation entity

Osteopetrosis – http://id.who.int/icd/entity/1498426606

Part of: LD24.1: Bone diseases with increased bone density › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies