Part Description

LP189000-5   Fetal chromosome 13+18+21+Y aneuploidy
Aneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders (birth defects). Some cancer cells also have abnormal numbers of chromosomes. Aneuploidy occurs during cell division when the chromosomes don't separate properly between the two cells. Chromosome abnormalities occur in 1 of 160 live births, the most common being extra chromosomes 21, 18 and 13. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

LOINC Names Get Info

Fully-Specified Name
Fetal chromosome 13+18+21+Y aneuploidy:PrThr:Pt:Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA
Long Common Name
Fetal chromosome 13+18+21+Y aneuploidy [Presence] based on dosage of chromosome-specific cell-free DNA from Maternal plasma
Short Name
Fet chrom 13+18+21+Y aneup cfDNA Ql
Display Name
Chr 13+18+21+Y aneuploidy Dosage of chromosome-specific cfDNA Ql (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome 13+18+21+Y aneuploidy

Part Model Get Info

  • Component
    Fetal chromosome 13+18+21+Y aneuploidy
    LP189000-5
    • Analyte
      Fetal chromosome 13+18+21+Y aneuploidy
      LP189000-5
      • Component Numerator
        Fetal chromosome 13+18+21+Y aneuploidy
        LP189000-5
        • Component Numerator Core
          Fetal chromosome 13+18+21+Y aneuploidy
          LP189000-5
        • 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
    Plas.cfDNA
    LP185795-4
  • Scale
    Ord
    LP7751-3
  • Method
    Dosage of chromosome specific cf DNA
    LP172871-8

Example Answer List: LL3140-2

Source: Laboratory Corporation of America
AnswerCodeScoreAnswer ID
No aneuploidy detectedLA21879-4
Aneuploidy suspectedLA21880-2
Aneuploidy detectedLA21881-0

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.66 (NAM)
Change Reason
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.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Fetální chromozom 13+18+21+Y aneuploidie plodu:Přítomnost nebo práh:Časový bod:DNA volná cirkulující (cfDNA):Ordinální:Dávkování chromozomálně specifické cfDNA
el-GRGreek (Greece)Εμβρυική ανευπλοειδία χρωμοσωμάτων 13+18+21+Υ:PrThr:Pt:Πλάσμα.cfDNA:Ord:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: MOLPATH MOLPATH.TRISOMY Ord PrThr Pt Δοσολογία ειδικού χρωμοσωμικού cf DNA Εμβρυική ανευπλοειδία χρωμοσωμάτων 13+18+21+Υ Πλάσμα Πλάσμα.cfDNA Χρωμόσωμα
es-ESSpanish (Spain)Aneuploidías cromosomas 13+18+21+Y:PrThr:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MXSpanish (Mexico)Cromosoma fetal 13 + 18 + 21 + Y aneuploidía:Presencia o umbral:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FRFrench (France)Chromosome 13+18+21+Y aneuploïdie foetale:Présence/Seuil:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-ITItalian (Italy)Cromosoma 13+18+21+Y, aneuploidia:PrThr:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Aneuploidia del cromosoma 13+18+21+Y DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica
pl-PLPolish (Poland)Aneuploidia chromosomów 13+18+21+Y płodu:granica wykrywalności:punkt w czasie:osocze.cfDNA:uporządkowany:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
Synonyms: Aneuploidia chromosomów 13, 18, 21 i Y płodu wolnokrążące DNA w osoczu
zh-CNChinese (China)胎儿染色体 13+18+21+Y 非整倍体性:存在情况或阈值:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 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;分子病理学试验 分子病理学试验类.三体性(三体型) 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 染色体二体型+染色体三体型 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿染色体 13+18+21+Y 非整倍体性(非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性);第 13+18+21+Y 号染色体异倍体 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77619-5