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Alpha-1 Antitrypsin Deficiency - Medical Condition Information

Alpha-1 Antitrypsin Deficiency

A1AT DeficiencyAAT DeficiencyAlpha-1+1 more
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📋Overview

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder characterized by low levels or dysfunctional alpha-1 antitrypsin protein, leading primarily to lung and liver disease. It is a well-established inherited condition caused by mutations in the SERPINA1 gene. The modern preferred term is Alpha-1 Antitrypsin Deficiency, often abbreviated as AATD.

Also known as:

A1AT DeficiencyAAT DeficiencyAlpha-1Homozygous Alpha-1-Antitrypsin Deficiency
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Medical codes (for reference)

UMLS CUI: C0221757
ICD-10-CM
E88.01
MeSH
D019896
SNOMED CT (US)
30188007

Codes are provided for reference and interoperability. They are not a diagnosis.

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