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5C5A Alpha-1-antitrypsin deficiency

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

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum.

synonyms

• Alpha-1-antitrypsin deficiency
• AATD - [Alpha-1-antitrypsin] deficiency
• Alpha-1 antitrypsin deficiency panniculitis
• Alpha-1-antichymotrypsin deficiency
• Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

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