obsolete_alpha-1-antitrypsin deficiency true alpha 1-antitrypsin deficiency AAT deficiency ALPHA-1-ANTITRYPSIN DEF true OMIM:613490 A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales. ICD9:273.4 http://www.orpha.net/ORDO/Orphanet_60 SNOMEDCT:154771007 Tomasz Adamusiak Alpha-1-antitrypsin deficiency (disorder) use 'http://www.orpha.net/ORDO/Orphanet_60' instead. New Label : Alpha-1 antitrypsin deficiency 2.32 DOID:13372