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Status Information

Status
DISCOURAGED
Comment
We discourage the use of this term (though it is allowed) in favor of the preferred method for reporting newborn screening amino acidemia results using 46733-2 (Amino acidemias newborn screen interpretation) together with 57793-2 (Amino acidemia conditions suspected).
Map-ToLong Common NameMapping Guidance
57793-2Amino acidemia disorder suspected [Identifier] in DBS
46733-2Amino acidemias newborn screen interpretation

Part Description

LP56753-4   Tyrosinemias
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) Source: National Library of Medicine, MeSH 2006

LOINC Names Get Info

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

Part Model Get Info

  • Component
    Tyrosinemias
    LP56753-4
    • Analyte
      Tyrosinemias
      LP56753-4
      • Component Numerator
        Tyrosinemias
        LP56753-4
        • Component Numerator Core
          Tyrosinemias
          LP56753-4
        • 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
     

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)Tyrosinémie:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Τυροσιναιμίες:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Τυροσιναιμίες
es-ESSpanish (Spain)Tirosinemias:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Tirosinemias:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CAFrench (Canada)Tyrosinémies:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-BEFrench (Belgium)Tyrosinémies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-ITItalian (Italy)Tirosinemie: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)tyrosinemieën:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BRPortuguese (Brazil)Tirosinemias:Imp:Pt:SgPapel:Nom:
Synonyms: ; TYR; Tyrosinemia; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RURussian (Russian Federation)Тирозинемии:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Tirozinemiler:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)酪氨酸血症:印象:时间点:全血.斑点:名义型:
Synonyms: TYR;酪氨酸血症（Tyrosinemias，Tyr）;高酪氨酸血症 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=46748-0