LP17187-3Alpha 1 antitrypsin phenotypeActive
Description
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
- Name
- Alpha 1 antitrypsin phenotype
- Type
- Component
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- A1AT Phenotyp
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP17187-3
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
LOINC Copyright
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