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NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
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alpha-1-Antitrypsin Deficiency, Autosomal Recessive (CUI C3501835) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C3501835

Semantic Type: Disease or Syndrome

Synonyms & Abbreviations: (see Synonym Details)
Alpha-1 Related Emphysema
alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Genetic Emphysema
Hereditary Pulmonary Emphysema
Inherited emphysema

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
FR 47 MSH
HM D019896 MSH
MDA 20121105 MSH
MMR 20150817 MSH
RN 0 MSH
SC 3 MSH
SOS A heriditary autosomal recessive disorder characterized by early-onset EMPHYSEMA, which becomes evident during young adulthood; TOBACCO SMOKING greatly increases the risk for emphysema at an earlier age. LIVER CIRRHOSIS and LIVER FAILURE may also occur in younger patients, but are less common. Mutations in the SERPINA1 gene have been identified. OMIM: 613490 MSH
TERMUI T831098 MSH
TERMUI T840860 MSH
TERMUI T840861 MSH
TERMUI T840862 MSH
TERMUI T840863 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C3501835

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