Version 2.78

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

Fully-Specified Name

Component
Fetal chromosome 13+18+21+Y aneuploidy
Property
PrThr
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

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

Example Answer List: LL3140-2

Source: Laboratory Corporation of America
Answer Code Score Answer ID
No aneuploidy detected LA21879-4
Aneuploidy suspected LA21880-2
Aneuploidy detected LA21881-0

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.66
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

Tag Language Translation
es-ES Spanish (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-MX Spanish (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-FR French (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-IT Italian (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
zh-CN Chinese (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

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

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