Version 2.78

Part Description

LP36654-9   Trisomy 21 risk
Trisomy 21 risk refers to the fetus's risk of having trisomy 21. The risk can be estimated based on maternal age, prenatal genetic testing of fetal DNA, various maternal lab tests, and fetal nuchal translucency or nuchal fold measurements. Trisomy 21, also called Down syndrome, is caused by the presence of three copies of either the entire chromosome 21 or a crucial region of chromosome 21 in each cell rather than two. Down syndrome is associated with cognitive delay, various forms of congenital heart disease, hearing loss, and leukemia, and characteristic physical features. The risk for Down syndrome increases with increasing maternal age. The general population risk of Down syndrome is 1 out of 650 to 1,000 live births; for a 30-year-old woman, the risk is 1 out of 1,000, while for a 40-year-old woman it nears 1 out of 100. [OMIM: 190685] Source: Regenstrief LOINC, OMIM: 190685

Fully-Specified Name

Component
Trisomy 21 risk cutoff
Property
Find
Time
Pt
System
^Fetus
Scale
Qn
Method

Additional Names

Short Name
Ts 21 risk CtO Fetus
Display Name
Trisomy 21 risk cutoff (fetus)
Consumer Name Alpha Get Info
Fetal Trisomy 21 risk cutoff

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
6103

Member of these Panels

LOINC Long Common Name
49085-4 First and Second trimester integrated maternal screen panel
48798-3 First trimester maternal screen panel - Serum or Plasma
49086-2 First trimester maternal screen with nuchal translucency panel
48799-1 Second trimester penta maternal screen panel - Serum or Plasma
48800-7 Second trimester quad maternal screen panel - Serum or Plasma
35086-8 Second trimester triple maternal screen panel - Serum or Plasma

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 21 Punto de corte:Hallazgo:Punto temporal:^Feto:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Límite de riesgo de trisomía 21:Hallazgo:Punto temporal:^ Feto:Cuantitativo:
et-EE Estonian (Estonia) Trisoomia 21 risk otsustuspiir:Leid:Pt:^loode:Qn:
Synonyms: Juhuslik Kvantitatiivne
fr-CA French (Canada) Risque de trisomie 21 Seuil décisionnel:Observation:Temps ponctuel:^Foetus:Quantitatif:
fr-FR French (France) Risque Trisomie 21 Cut off:Recherche:Ponctuel:Concerne le foetus:Numérique:
fr-BE French (Belgium) Risque de trisomie 21 Seuil décisionnel:Observation:Temps ponctuel:^Foetus:Quantitatif:
Synonyms: Seuil décisionnel
it-IT Italian (Italy) Trisomia 21, rischio, cutoff:Osservazione:Pt:^feto:Qn:
Synonyms: Chimica Cut-off Osservazione Punto nel tempo (episodio) Rischio di trisomia 21
nl-NL Dutch (Netherlands) trisomie 21 risico afkapwaarde:bevinding:moment:^foetus:kwantitatief:
pt-BR Portuguese (Brazil) Risco para Trissomia 21 cutoff:Achado:Pt:^Feto:Qn:
Synonyms: ; Ts 21 risk; Downs; Down's syndrome; ds; Finding; Findings; Point in time; Random; Fet; Fetal; Quantitative; QNT; Quant; Quan; CtO; Down syndrome; Chemistry
ru-RU Russian (Russian Federation) Трисомия 21 риск порог:Находка:ТчкВрм:^Плод:Колич:
Synonyms: Количественный Точка во времени;Момент Трисомия 21 в анамнезе
tr-TR Turkish (Turkey) Trizomi 21 riski kestirim:Bulgu:Zmlı:^Fetus:Kant:
zh-CN Chinese (China) 三体型 21 风险 截止点:发现:时间点:^胎儿:定量型:
Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 三体型 三体细胞 三染色体性 三染色体细胞 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 截断值;截止;截止值 时刻;随机;随意;瞬间 胎;超系统 - 胎儿

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=49583-8