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LOINC Names Get Info

Fully-Specified Name
CFTR gene.p.IVS8 polyT 7T/9T variant:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
CFTR gene.p.IVS8 polyT 7T/9T [presence] in Blood or Tissue by Molecular genetics method
Short Name
CFTR IVS8 polyT 7T/9T Bld/T Ql
Display Name
CFTR gene p.IVS8 polyT 7T/9T variant Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CFTR gene p.IVS8 PolyT 7T/9T Variant, Blood or tissue specimen

Part Model Get Info

  • Component
    CFTR gene.p.IVS8 polyT 7T/9T variant
    LP71294-0
    • Analyte
      CFTR gene.p.IVS8 polyT 7T/9T variant
      LP71294-0
      • Component Numerator
        CFTR gene.p.IVS8 polyT 7T
        LP71355-9
        • Component Numerator Core
          CFTR gene.p.IVS8 polyT 7T
          LP71355-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        9T variant
        LP175740-2
        • Component Denominator Core
          9T variant
          LP175740-2
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • 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 2.73 (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.
Order vs. Observation
Both
Common Test Rank Get Info
19293

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR alela p.IVS8 polyT 7T/9T:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CFTR p.IVS8 polyT 7T/Παραλλαγή 9T:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.MUT Ord P Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CFTR Γονίδιο CFTR p.IVS8 polyT 7T Γονίδιο CFTR.p.IVS8 polyT Ιστός Μοριακή γενετική Παραλλαγή 9T
es-ESSpanish (Spain)Gen CFTR p.IVS8 poliT 7T/variante 9T:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen CFTR p. Variante IVS8 polyT 7T / 9T:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)CFTR gène mutation p.IVS8 polyT 7T//9T variant:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)CFTR, gene.p.IVS8 polyT 7T/variante 9T:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene CFTR Gene CFTR p.IVS8 PolyT Gene CFTR p.IVS8 polyT 7T Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)CFTR-gen.p.IVS8 polyT 7T/9T-variant:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CFTR gen CFTR gen.p.IVS8 polyT CFTR gen.p.IVS8 polyT 7T molgen
pl-PLPolish (Poland)CFTR gen.p.IVS8 polyT 7T/wariant 9T:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CFTR p.IVS8 polyT Gen CFTR p.IVS8 polyT 7T Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą
pt-BRPortuguese (Brazil)CFTR gene.p.IVS8 poliT 7T/9T variante:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; CFTR IVS8 polyT 7T; CFTR IVS8 polyT 7T/9T; Intron 8 variant; Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; 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)CFTR ген.p.IVS8 polyT 7T/9T вариант:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)CFTR geni.p.IVS8 polyT 7T/9T varyant:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)CFTR 基因.p.IVS8 polyT 7T/9T 变异:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: 9T 突变体;9T 变异体;9T 变体 ABC35;ABCC7;CBAVD;CFA;MRP7;囊性纤维化跨膜转运调节物;囊性纤维化转膜传导调节因子;囊性纤维变性跨膜传导调节因子;囊性纤维变性跨膜传导调节蛋白;囊肿性纤维化跨膜传导调节因子;囊肿性纤维化跨膜传导调节蛋白 CFTR IVS8 PolyT 7T;CFTR 基因.p.IVS polyT 7T;CFTR 基因.p.IVS 多聚胸腺嘧啶核苷酸 7T;CFTR 基因.p.IVS 多聚胸腺核苷酸 7T;CFTR 基因.p.IVS8 多聚胸腺嘧啶核苷酸 7T;CFTR 基因.p.IVS8 多聚胸腺核苷酸 7T CFTR IVS8 PolyT;CFTR 基因.p.IVS polyT;CFTR 基因.p.IVS 多聚胸腺嘧啶核苷酸;CFTR 基因.p.IVS 多聚胸腺核苷酸;CFTR 基因.p.IVS8 多聚胸腺嘧啶核苷酸;CFTR 基因.p.IVS8 多聚胸腺核苷酸;Intron 8 variant;内含子 8 变体 P 型 任意;任意的;人工型 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.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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=53789-4