49244-7Alpha 1 antitrypsin phenotype [Interpretation] in Serum or Plasma NarrativeActive
Part 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
Fully-Specified Name
- Component
- Alpha 1 antitrypsin phenotype
- Property
- Imp
- Time
- Pt
- System
- Ser/Plas
- Scale
- Nar
- Method
Additional Names
- Short Name
- A1AT Phenotyp SerPl-Imp
- Display Name
- Alpha 1 antitrypsin phenotype Nar [Interp]
- Consumer Name Alpha
- Interpretation of Alpha 1 antitrypsin phenotype test result, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Release 2.71: COMPONENT: Changed for naming consistency across LOINC.;
- Order vs. Observation
- Observation
- Common US Lab Results Rank
- 6812
Member of these Groups
LG13381-5 | Alpha 1 antitrypsin phenotype| |
Language Variants Get Info
- zh-CNChinese (China)
- Alpha 1 抗胰蛋白酶表现型:
印象: 时间点: 血清/血浆: 叙述型: - nl-NLDutch (Netherlands)
- alfa-1-antitrypsine fenotype:
interpretatie: moment: serum of plasma: tekstueel: - fr-BEFrench (Belgium)
- Phénotypage de l'alpha-1-antitrypsine:
Impression/interprétation d'étude: Temps ponctuel: Sérum/Plasma: Narratif: - fr-CAFrench (Canada)
- Phénotype de l'alpha 1 antitrypsine:
Impression/interprétation d'étude: Temps ponctuel: Sérum/Plasma: Narratif: - fr-FRFrench (France)
- Alpha-1 antitrypsine phénotype:
Interprétation: Ponctuel: Sérum/Plasma: Résultat textuel: - it-ITItalian (Italy)
- Alfa 1 antitripsina, fenotipo:
Imp: Pt: Siero/Plasma: Nar: - pt-BRPortuguese (Brazil)
- Alfa 1 antitripsina Fenotipagem:
Imp: Pt: Sor/Plas: Nar: - ru-RURussian (Russian Federation)
- Альфа 1 антитрипсин фенотипирование:
Впчт: ТчкВрм: Сыв/Плаз: Опис: - es-MXSpanish (Mexico)
- Fenotipado de alfa 1 antitripsina:
Impresión / interpretación del estudio: Punto temporal: Suero o Plasma: Narrativo: - es-ESSpanish (Spain)
- Fenotipo Alfa 1 antitripsina:
Impresión/interpretación del estudio: Punto temporal: Suero o Plasma: Narrativo: - tr-TRTurkish (Turkey)
- Alfa 1 antitripsin fenotipleme:
İzlnm: Zmlı: Ser/Plaz: Öykü:
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=49244-7
LOINC Copyright
Copyright © 2022 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright