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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

LOINC Names Get Info

Fully-Specified Name
Chromosome 21 trisomy:Prctl:Pt:Bld/Tiss:SemiQn:Cytogenetics
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

Part Model Get Info

  • Component
    Chromosome 21 trisomy
    LP19800-9
    • Analyte
      Chromosome 21 trisomy
      LP19800-9
      • Component Numerator
        Chromosome 21 trisomy
        LP19800-9
        • Component Numerator Core
          Chromosome 21 trisomy
          LP19800-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prctl
    LP6846-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    SemiQn
    LP436123-6
  • Method
    Cytogenetics
    LP6215-0

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

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozom 21 trizomie:Percentil:Časový bod:Krev/tkáň:Semikvantitativní:Cytogenetika
el-GRGreek (Greece)Τρισωμία χρωμοσώματος 21:Prctl:Pt:Αίμα/Ιστός:Ημιποσοτική:Κυτταρογενετική
Synonyms: MOLPATH MOLPATH.TRISOMY Prctl Pt Αίμα Αίμα/Ιστός Ημιποσοτική Ιστός Κυτταρογενετική Τρισωμία χρωμοσώματος 21 Χρωμόσωμα
es-ESSpanish (Spain)Trisomía del cromosoma 21:Percentil:Punto temporal:Sangre o tejido:Semicuantitativo:Citogenética
Synonyms: Semicuantitativo
es-MXSpanish (Mexico)Trisomía del cromosoma 21:Percentil:Punto temporal:Sangre o tejido:Cuantitativo:Citogenética
fr-FRFrench (France)Chromosome 21 trisomie:Percentile:Ponctuel:Sang/Tissu:Semi-Quantitatif:Cytogénétique
it-ITItalian (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-NLDutch (Netherlands)chromosoom 21 trisomie:percentiel:moment:bloed of weefsel:semikwantitatief:cytogenetica
pl-PLPolish (Poland)Trisomia chromosomu 21:percentyl:punkt w czasie:krew lub tkanka:półilościowy:cytogenetyka
pt-BRPortuguese (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-CNChinese (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

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=43306-0