Version 2.77

Part Descriptions

LP207799-0   PTPN22 gene.c.1858C>T
The PTPN22 (protein tyrosine phosphatase N22) gene encodes the protein tyrosine phosphatase Lyp. A single nucleotide polymorphism in the PTPN22 gene, c.1858>T, encodes products with different Csk binding affinities. The PTPN22 c.1858C>T variant has been associated with three different autoimmune disorders: type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. PMID: 15620463 Source: Regenstrief LOINC, PMID: 15620463

LP207799-0   PTPN22 gene.c.1858C>T
Protein tyrosine phosphatase, non-receptor type 22 (lymphoid), also known as PTPN22, is a protein that in humans is encoded by the PTPN22 gene.This gene can be expressed in different forms. PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases. The common 1858T (rs2476601) Arg620Trp nonsynonymous single nucleotide polymorphism located in the PTPN22 gene has been associated with autoimmune disorders, including an increased risk of Type 1 Diabetes, rheumatoid arthritis, Systemic Lupus Erythematosus, Vitiligo and Graves' disease, but a decreased risk of Crohn's disease. A recent study suggests that the mutation does not, on a population basis, reduce life span. The mutation may be conserved in human evolution because it may provide a hyper-immune response to infectious disease. Source: LOINC partner 1

Fully-Specified Name

Component
PTPN22 gene.c.1858C>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
PTPN22 c.1858C>T Bld/T Ql
Display Name
PTPN22 gene.c.1858C>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PTPN22 gene c.1858C>T, Blood or tissue specimen

Example Answer List: LL2872-1

Source: Laboratory Corporation of America
Answer Code Score Answer ID
Not detected LA11883-8
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PTPN22 c.1858C>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen PTPN22 c.1858C> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) PTPN22 gène c.1858C>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) PTPN22 gene.c.1858C>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PTPN22-gen.c.1858C>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PTPN22 gen.c.1858C>T
zh-CN Chinese (China) PTPN22 基因.c.1858C>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 蛋白酪氨酸磷酸酶, 非受体型 22;Protein Tyrosine Phosphatase, Non-Receptor Type 22 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81142-2