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Status Information

Status
DISCOURAGED
Comment
We discourage the use of this term (though it is allowed) because the screening test usually cannot distinguish between the different types of galactosemia. We recommend the more general term 46737-3 (Galactosemias newborn screen interpretation) instead.
Map-ToLong Common NameMapping Guidance
46737-3Galactosemias newborn screen interpretation

LOINC Names Get Info

Fully-Specified Name
Galactose epimerase deficiency:Imp:Pt:Bld.dot:Ord:
Long Common Name
Galactose epimerase deficiency newborn screen interpretation
Short Name
GALE DBS-Imp
Display Name
Galactose epimerase deficiency Ql (DBS) [Interp]
Consumer Name Alpha Get Info
Galactose epimerase deficiency, Dried blood spot

Part Model Get Info

  • Component
    Galactose epimerase deficiency
    LP56783-1
    • Analyte
      Galactose epimerase deficiency
      LP56783-1
      • Component Numerator
        Galactose epimerase deficiency
        LP56783-1
        • Component Numerator Core
          Galactose epimerase deficiency
          LP56783-1
        • 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
    Ord
    LP7751-3
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.19
Last Updated
Version 2.44 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Galaktózaepimeráza deficit:Interpretace:Časový bod:Suchá krevní kapka (DBS):Ordinální:
el-GRGreek (Greece)Ανεπάρκεια επιμεράσης της γαλακτόζης:Imp:Pt:Bld.dot:Ord:
Synonyms: Bld.dot CHEM Imp Ord Pt Αίμα Ανεπάρκεια επιμεράσης της γαλακτόζης Γαλακτόζη
es-ESSpanish (Spain)Deficiencia galactosa epimerasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Ord:
es-MXSpanish (Mexico)Deficiencia de galactosa epimerasa:Impresión / interpretación del estudio:Punto temporal:DBS:Ordinal:
fr-CAFrench (Canada)Déficit en galactose épimérase:Impression:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-BEFrench (Belgium)Déficit en galactose épimérase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Ordinal:
it-ITItalian (Italy)Galattosio epimerasi, deficit:Imp:Pt:Sangue.su carta da filtro:Ord:
Synonyms: Chimica Deficit di galattosio epimerasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)galactose-epimerasedeficiëntie:interpretatie:moment:gedroogde bloedspot:ordinaal:
Synonyms: galactose-epimerase deficientie
pl-PLPolish (Poland)Niedobór epimerazy galaktozy:ocena:punkt w czasie:sucha kropla krwi:uporządkowany:
Synonyms: Niedobór UDP-galaktozo-4-epimerazy
pt-BRPortuguese (Brazil)Galactose epimerase deficiencia:Imp:Pt:SgPapel:Ord:
Synonyms: ; GALE; Cerebrose; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Chemistry
tr-TRTurkish (Turkey)Galaktoz epimeraz yetmezliği:İzlnm:Zmlı:Kan.nokta:Srl:
zh-CNChinese (China)半乳糖表异构酶缺陷:印象:时间点:全血.斑点:序数型:
Synonyms: GALE;半乳糖差向异构酶缺乏;半乳糖差向异构酶缺陷;半乳糖差向酶缺乏;半乳糖差向酶缺陷;半乳糖表异构酶缺乏;半乳糖表异构酶缺陷（Galactose Epimerase Deficiency） 乳单糖;脑半乳糖;脑糖 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 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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=46773-8