CB04.2 Disorders of surfactant metabolism

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation

synonyms

• Disorders of surfactant metabolism
• Chronic lung disease with surfactant disorder
• Late onset surfactant deficiency
• Neonatal acute respiratory distress with surfactant disorder
• Surfactant protein B (SP-B) deficiency
• Surfactant ABCA3 gene mutation
• Surfactant protein C gene mutation

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