Version 2.78

Term Description

The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Carnitine biosynthesis intermediates pattern
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
Carnitine biosynthesis pattern DBS-Imp
Display Name
Carnitine biosynthesis intermediates pattern Nar (DBS) [Interp]
Consumer Name Alpha Get Info
Interpretation of Carnitine biosynthesis intermediates pattern test result, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
79284-6 Carnitine biosynthesis intermediates panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Patrón de acilcarnitinas:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Patrón de intermedios de biosíntesis de carnitina:Impresión / interpretación del estudio:Punto temporal:DBS:Narrativo:
fr-FR French (France) Carnitine intermédiaires de synthèse Profil:Interprétation:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Intermediari nella biosintesi della carnitina, profilo:Imp:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Impressione/interpretazione di studio Profilo di intermediari nella biosintesi della car Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) carnitine biosynthese intermediairen patroon:interpretatie:moment:gedroogde bloedspot:tekstueel:
tr-TR Turkish (Turkey) Karnitin byiosentezi arameabolitleri örüntüsü:İzlnm:Zmlı:Kan.nokta:Öykü:
Synonyms: Karnitin byiosentezi arameabolitleri paterni
zh-CN Chinese (China) 肉碱生物合成中间产物模式:印象:时间点:全血.斑点:叙述型:
Synonyms: 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）生物合成中间产物模式;肉碱生物合成（生物合成过程、生物合成作用）中间产物（中间产物类、中间物、中间体）模式（模式特征、特征模式、图谱、式样、组份、组分、成员） 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=79339-8