Version 2.78

Description

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

Part Display Name
Alpha 1 antitrypsin phenotype
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
A1AT Phenotyp

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP17187-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (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）
fr-CA French (Canada) Phénotype de l'alpha 1 antitrypsine
et-EE Estonian (Estonia) Alfa-1-antitrüpsiini fenotüpiseerimine
es-ES Spanish (Spain) Fenotipo Alfa 1 antitripsina
it-IT Italian (Italy) Alfa 1 antitripsina, fenotipo
Synonyms: Fenotipo dell''alfa 1 antitripsina
tr-TR Turkish (Turkey) Alfa 1 antitripsin fenotipleme
ru-RU Russian (Russian Federation) Альфа 1 антитрипсин фенотипирование
nl-NL Dutch (Netherlands) alfa-1-antitrypsine fenotype
fr-BE French (Belgium) Phénotypage de l'alpha-1-antitrypsine