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LOINC Names Get Info

Fully-Specified Name
SLC26A4 gene.p.Thr416Pro:PrThr:Pt:Bld:Ord:Molgen
Long Common Name
SLC26A4 gene p.Thr416Pro [Presence] in Blood by Molecular genetics method
Short Name
SLC26A4 p.T416P Bld Ql
Display Name
SLC26A4 gene p.Thr416Pro Molgen Ql (Bld)
Consumer Name Alpha Get Info
SLC26A4 gene p.Thr416Pro, Blood

Part Model Get Info

  • Component
    SLC26A4 gene.p.Thr416Pro
    LP71169-4
    • Analyte
      SLC26A4 gene.p.Thr416Pro
      LP71169-4
      • Component Numerator
        SLC26A4 gene.p.Thr416Pro
        LP71169-4
        • Component Numerator Core
          SLC26A4 gene.p.Thr416Pro
          LP71169-4
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld
    LP7057-5
    • System Core
      Bld
      LP7057-5
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.56 (MIN)
Change Reason
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SLC26A4 p.Thr416Pro:Přítomnost nebo práh:Časový bod:Krev:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SLC26A4 p.Thr416Pro:PrThr:Pt:Αίμα:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Ord P PrThr Pt Αίμα Γονίδιο Γονίδιο SLC26A4 Γονίδιο SLC26A4 p.Thr416Pro Μοριακή γενετική
es-ESSpanish (Spain)Gen SLC25A4 p.T416P:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MXSpanish (Mexico)SLC26A4 gene.p.Thr416Pro:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FRFrench (France)SLC26A4 gène p.Thr416Pro:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)SLC26A4, gene.p.Thr416Pro:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene SLC26A4 Gene SLC26A4 p.Thr416Pro Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NLDutch (Netherlands)SLC26A4-gen.p.T416P:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen SLC26A4 gen SLC26A4 gen.p.T416P
pl-PLPolish (Poland)SLC26A4 gen.p.Thr416Pro:granica wykrywalności:punkt w czasie:krew:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna
pt-BRPortuguese (Brazil)SLC26A4 gene.p.T416P:Arb:Pt:SgTotal:Ord:Genética molecular
Synonyms: DFNB4; EVA; NSRD4; PDS; Pendrin (Sodium-independent chloride/iodide transporter); Pendred syndrome; Deafness, autosomal recessive 4; Solute carrier family 26, member 4; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)SLC26A4 ген.p.T416P:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TRTurkish (Turkey)SLC26A4 geni.p.T416P:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)SLC26A4 基因.p.T416P:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: DFNB4;EVA;NSRD4;PDS;Pendred 综合征;Pendred 综合征三联征（先天性感觉神经性耳聋、甲状腺肿和高氯酸盐试验阳性）;Pendrin (钠依赖性氯/碘转运蛋白);Pendrin 碘/氯转运蛋白;Pendrin 蛋白;先天性耳聋伴甲状腺肿;大前庭水管综合征;常染色体隐性遗传性耳聋;溶质转运蛋白家族 26, 成员 4;潘德雷德综合征;耳聋, 常染色体隐性 4 P 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 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53724-1