Version 2.77

Part Description

LP19800-9   Chromosome 21 trisomy
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
Chromosome 21 trisomy
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Cytogenetics

Additional Names

Short Name
Chr 21 Ts Bld/T Ql
Display Name
Chr 21 trisomy Cytogenetics Ql (Bld/Tiss)
Consumer Name Alpha Get Info
Chromosome 21 trisomy, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
7522

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) trisomía de cromosoma 21:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:citogenética
es-ES Spanish (Spain) Trisomía del cromosoma 21:Arbitrario:Punto temporal:Sangre o tejido:Ord:Citogenética
es-MX Spanish (Mexico) Trisomía del cromosoma 21:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Citogenética
et-EE Estonian (Estonia) Kromosoom 21 trisoomia:Arb:Pt:B/Tis:Ord:Tsütogeenetika
Synonyms: Järgarvuline Juhuslik Kude Veri Veri või koematerjal
fr-FR French (France) Chromosome 21 trisomie:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Cytogénétique
it-IT Italian (Italy) Cromosoma 21, trisomia:Arb:Pt:Sangue/Tess:Ord:Citogenetica
Synonyms: Arbitrario Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Trisomia cromosoma genetica Trisomia del cromosoma 21
ko-KR Korean (Korea, Republic Of) 염색체 21 세염색체:임의적분:검사시점:전혈/조직:순위척도:세포유전
nl-NL Dutch (Netherlands) chromosoom 21 trisomie:aanwezigheid:moment:bloed of weefsel:ordinaal:cytogenetica
pl-PL Polish (Poland) Trisomia chromosomu 21:jednostka umowna:punkt w czasie:krew lub tkanka:półilościowy:cytogenetyka
pt-BR Portuguese (Brazil) Trissomia do cromossomo 21:Arb:Pt:Sg/Tecido:Ord:Citogenética
Synonyms: ; Chrom21 Ts; Down syndrome; Downs; Chromosomes; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Cytog; Chromosom; Molecular pathology
tr-TR Turkish (Turkey) Kromozom 21 trizomi:Sç:Zmlı:Kan/Dk:Srl:Sitogenetik
zh-CN Chinese (China) 染色体 21 三体性:任意型:时间点:全血/组织:序数型:细胞遗传学方法
Synonyms: 21号染色体三体型;21号染色体三体性;Down 氏综合征;Down 综合征;唐氏症;唐氏综合征;唐氏综合症;染色体 21 三体型;蒙古症 三体型 三体细胞 三染色体性 三染色体细胞 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;分子病理学试验 分子病理学试验类.三体性（三体型） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体二体型+染色体三体型 细胞遗传学;细胞遗传学类实验室方法;细胞遗传学类方法;细胞遗传学类检验方法 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21771-1