5C5A

ICD-11 MMS 2026-01

Alpha-1-antitrypsin deficiency

Description

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.

Index terms

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

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C50 – Inborn errors of amino acid or other organic acid metabolism
  • 5C51 – Inborn errors of carbohydrate metabolism
  • 5C52 – Inborn errors of lipid metabolism
  • 5C53 – Inborn errors of energy metabolism
  • 5C54 – Inborn errors of glycosylation or other specified protein modification
  • 5C55 – Inborn errors of purine, pyrimidine or nucleotide metabolism
  • 5C56 – Lysosomal diseases
  • 5C57 – Peroxisomal diseases
  • 5C58 – Inborn errors of porphyrin or heme metabolism
  • 5C59 – Inborn errors of neurotransmitter metabolism
  • 5C5Y – Other specified inborn errors of metabolism
  • 5C5Z – Inborn errors of metabolism, unspecified

Foundation entity

Alpha-1-antitrypsin deficiency – http://id.who.int/icd/entity/824872160

Part of: 05: Endocrine, nutritional or metabolic diseases