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Term Description

This panel is used to help diagnose tyrosinemia type 1, also known as hereditary tyrosinemia type 1 (HT-1) after an abnormal newborn screen as well as monitor patients previously diagnosed with the disease and being treated with nitisinone.

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINCNameR/O/CCardinalityExample UCUM Units
94573-3Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS
Indent35571-9Tyrosine [Moles/volume] in DBSumol/L
Indent47700-0Methionine [Moles/volume] in DBSumol/L
Indent53231-7Succinylacetone [Moles/volume] in DBSumol/L
Indent29573-3Phenylalanine [Moles/volume] in DBSumol/L
Indent85098-2Nitisinone [Moles/volume] in DBS by LC/MS/MSumol/L

LOINC Names Get Info

Fully-Specified Name
Tyrosinemia newborn screening follow-up & therapeutic monitoring panel:-:Pt:Bld.dot:Qn:
Long Common Name
Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS
Short Name
TYR NBS f/u + monitor Pnl DBS
Display Name
Tyrosinemia newborn screening follow-up and therapeutic monitoring panel (DBS)
Consumer Name Alpha Get Info
Tyrosinemia newborn screening follow-up and Therapeutic monitoring panel, Dried blood spot

Part Model Get Info

  • Component
    Tyrosinemia newborn screening follow-up & therapeutic monitoring panel
    LP417993-5
    • Analyte
      Tyrosinemia newborn screening follow-up & therapeutic monitoring panel
      LP417993-5
      • Component Numerator
        Tyrosinemia newborn screening follow-up & therapeutic monitoring panel
        LP417993-5
        • Component Numerator Core
          Tyrosinemia newborn screening follow-up & therapeutic monitoring panel
          LP417993-5
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    -
    LP6769-6
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Tyrosinemie novorozenecký screening následná kontrola a terapeutická monitorace panel:-:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GRGreek (Greece)Πίνακας παρακολούθησης εξετάσεων διαλογής νεογνικής τυροσιναιμίας & θεραπευτικής παρακολούθησης:-:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CHEM PANEL.CHEM Pt Qn Αίμα Πίνακας παρακολούθησης εξετάσεων διαλογής νεογνικής τυροσιναιμίας & θεραπευτικής παρακολούθησης
es-ESSpanish (Spain)Panel de seguimiento y monitorización terapéutica del cribado neonatal de tirosinemia:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Panel de seguimiento y control terapéutico de la detección de tirosinemia en recién nacidos:-:Punto temporal:DBS:Cuantitativo:
fr-FRFrench (France)Tyrosinémie suivi dépistage néonatal et monitoring thérapeutique panel:-:Ponctuel:Sang buvard:Numérique:
it-ITItalian (Italy)Screening neonatale per tirosinemia, follow-up & monitoraggio terapeutico, panel:-:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Panel screening neonatale per tirosinemia, follow-up e monitoraggio terapeutico Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
zh-CNChinese (China)酪氨酸血症新生儿筛查随访和治疗监测组套:-:时间点:全血.斑点:定量型:
Synonyms: Asympt SCN 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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 治疗 治疗性的 治疗的 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液 酪氨酸血症（高酪氨酸血症、酪氨酸代谢障碍）新生儿筛查随访（跟踪、跟踪随访、跟进）和治疗监测（监控、监视、监护）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94573-3
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/94573-3