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Part Description

LP111254-1   Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.

Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

LOINC Names Get Info

Fully-Specified Name
Severe combined immunodeficiency:Imp:Pt:Bld.dot:Nom:
Long Common Name
Severe combined immunodeficiency newborn screen interpretation
Short Name
SCID DBS-Imp
Display Name
Severe combined immunodeficiency (DBS) [Interp]
Consumer Name Alpha Get Info
Severe combined immunodeficiency, Dried blood spot

Part Model Get Info

  • Component
    Severe combined immunodeficiency
    LP111254-1
    • Analyte
      Severe combined immunodeficiency
      LP111254-1
      • Component Numerator
        Severe combined immunodeficiency
        LP111254-1
        • Component Numerator Core
          Severe combined immunodeficiency
          LP111254-1
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    NULL
     

Preferred Answer List: LL6931-1

AnswerCodeScoreAnswer ID
BorderlineLA4259-3
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)LA11884-6
One or more tests pendingLA16204-2
Screen NegativeLA34518-3
Screen PositiveLA34519-1
Specimen unacceptable for at least one conditionLA34520-9
InconclusiveCopyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1
Not testedLA13538-6

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.73 (MIN)
Change Reason
Release 2.81: AnswerListId: APHL change request; Previous Releases: Changed answer list from "Normative" to"Preferred" to fit the current LOINC model.
Order vs. Observation
Observation
Common Test Rank Get Info
14230

Member of these Panels

LOINCLong Common Name
54089-8Newborn screening panel American Health Information Community (AHIC)
62333-0Severe combined immunodeficiency (SCID) newborn screening panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Imunodeficience těžká kombinovaná:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Βαριά συνδυασμένη ανοσοανεπάρκεια:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ανοσοανεπάρκεια Βαριά συνδυασμένη ανοσοανεπάρκεια
es-ESSpanish (Spain)Inmunodeficiencia combinada severa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Inmunodeficiencia combinada grave:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Immunodéficience sévère associée:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BEFrench (Belgium)Immunodéficience combinée sévère:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-ITItalian (Italy)Immunodeficienza combinata grave:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)ernstige gecombineerde immunodeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: ernstige gecombineerde immunodeficientie
ru-RURussian (Russian Federation)Тяжелый комбинированный иммунодефицит:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Ciddi kombine immun bozukluk:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)严重联合免疫缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: 严重联合免疫缺陷病;Severe combined immunodeficiency;SCID 免疫机能缺陷;免疫缺乏;免疫缺陷病 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 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 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 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=62321-5