Version 2.80

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
Prctl
Time
Pt
System
Bld/Tiss
Scale
SemiQn
Method
Cytogenetics

Additional Names

Long Common Name
Chromosome 21 trisomy [Percentile] by Cytogenetics
Short Name
Chr 21 Ts Prctl Bld/T
Display Name
Chr 21 trisomy Cytogenetics (Bld/Tiss) [%]
Consumer Name Alpha Get Info
Chromosome 21 trisomy, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.75 (MAJ)
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Τρισωμία χρωμοσώματος 21:Prctl:Pt:Αίμα/Ιστός:Ημιποσοτική:Κυτταρογενετική
Synonyms: Prctl Τρισωμία χρωμοσώματος 21 Χρωμόσωμα
es-ES Spanish (Spain) Trisomía del cromosoma 21:Percentil:Punto temporal:Sangre o tejido:Semicuantitativo:Citogenética
Synonyms: Semicuantitativo
es-MX Spanish (Mexico) Trisomía del cromosoma 21:Percentil:Punto temporal:Sangre o tejido:Cuantitativo:Citogenética
fr-FR French (France) Chromosome 21 trisomie:Percentile:Ponctuel:Sang/Tissu:Semi-Quantitatif:Cytogénétique
it-IT Italian (Italy) Cromosoma 21, trisomia:Prctl:Pt:Sangue/Tess:SemiQn:Citogenetica
Synonyms: Patologia molecolare Percentile Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Trisomia cromosoma genetica Trisomia del cromosoma 21
nl-NL Dutch (Netherlands) chromosoom 21 trisomie:percentiel:moment:bloed of weefsel:semikwantitatief:cytogenetica
pl-PL Polish (Poland) Trisomia chromosomu 21:percentyl:punkt w czasie:krew lub tkanka:półilościowy:cytogenetyka
pt-BR Portuguese (Brazil) Trisomia do cromossomo 21:Prctl:Pt:Sg/Tecido:Qn:Citogenética
Synonyms: ; Chrom21 Ts; Down syndrome; Downs; Chromosomes; Percentile; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Cytog; Chromosom; Molecular pathology
zh-CN Chinese (China) 染色体 21 三体性:百分位数:时间点:全血/组织:半定量型: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 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 百分位 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=43306-0