Version 2.78

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.
Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
94573-3 Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS
Indent35571-9 Tyrosine [Moles/volume] in DBS umol/L
Indent47700-0 Methionine [Moles/volume] in DBS umol/L
Indent53231-7 Succinylacetone [Moles/volume] in DBS umol/L
Indent29573-3 Phenylalanine [Moles/volume] in DBS umol/L
Indent85098-2 Nitisinone [Moles/volume] in DBS by LC/MS/MS umol/L

Fully-Specified Name

Component
Tyrosinemia newborn screening follow-up & therapeutic monitoring panel
Property
-
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

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

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (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-MX Spanish (Mexico) Panel de seguimiento y control terapéutico de la detección de tirosinemia en recién nacidos:-:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Tyrosinémie suivi dépistage néonatal et monitoring thérapeutique panel:-:Ponctuel:Sang buvard:Numérique:
it-IT Italian (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-CN Chinese (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