Version 2.78

Description

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

Basic Part Properties

Part Display Name
Trisomy 21 risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-02-21
Construct for LOINC Short Name
Ts 21 risk

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36654-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 三体型 21 风险
Synonyms: 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
fr-CA French (Canada) Risque de trisomie 21
et-EE Estonian (Estonia) Trisoomia 21 risk
es-ES Spanish (Spain) Riesgo de trisomía 21
it-IT Italian (Italy) Trisomia 21, rischio
Synonyms: Rischio di trisomia 21
tr-TR Turkish (Turkey) Trizomi 21 riski
ru-RU Russian (Russian Federation) Трисомия 21 риск
nl-NL Dutch (Netherlands) trisomie 21 risico
fr-BE French (Belgium) Risque de trisomie 21