Version 2.73

LP17187-3Alpha 1 antitrypsin phenotypeActive


LP17187-3   Alpha 1 antitrypsin phenotype
Alpha-1 antitrypsin deficiency is a relatively common autosomal recessive condition. The most common deficiency alleles in the alpha-1-antitrypsin gene on the protease inhibitor locus are PI*Z and PI*S. The normal allele is PI*M. Patients homozygous for PI*Z or PI*S or heterozygous PI*Z/PI*S will have decreased alpha-1-antitrypsin levels, with PI*Z/PI*Z having lowest levels of 10-20% of normal. Patients with PI*Z/PI*Z or PI*S/PI*Z genotypes reportedly have increased risk of childhood liver disease and chronic obstructive pulmonary disease(COPD) and emphysema in adult life. PI*M/PI*Z patients may have decreased pulmonary function and increased risk for COPD, especially smokers. Source: Regenstrief Institute

Basic Part Properties

Alpha 1 antitrypsin phenotype
Created On
Construct for LOINC Short Name
A1AT Phenotyp

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Language Variants Get Info

zh-CNChinese (China)
Alpha 1 抗胰蛋白酶表现型
Synonyms: Alpha 1 抗胰蛋白酶(α1-抗胰蛋白酶、A1AT)表现型(表现型分型、表型分型、表现型分析、表型分析、表现型鉴定、表型鉴定)
nl-NLDutch (Netherlands)
alfa-1-antitrypsine fenotype
et-EEEstonian (Estonia)
Alfa-1-antitrüpsiini fenotüpiseerimine
fr-BEFrench (Belgium)
Phénotypage de l'alpha-1-antitrypsine
fr-CAFrench (Canada)
Phénotype de l'alpha 1 antitrypsine
it-ITItalian (Italy)
Alfa 1 antitripsina, fenotipo
Synonyms: Fenotipo dell''alfa 1 antitripsina
ru-RURussian (Russian Federation)
Альфа 1 антитрипсин фенотипирование
Synonyms: Fenotipizzazione dell''alfa 1 antitripsina
es-ESSpanish (Spain)
Fenotipo Alfa 1 antitripsina
tr-TRTurkish (Turkey)
Alfa 1 antitripsin fenotipleme