Version 2.78

Fully-Specified Name

Component
Fatty acid oxidation conditions suspected
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
FA oxidation conditions suspected DBS
Display Name
Fatty acid oxidation conditions suspected Nom (DBS)
Consumer Name Alpha Get Info
Fatty acid oxidation conditions suspected, Dried blood spot

Preferred Answer List: LL838-4

Source: Regenstrief Institute
Answer Code Score Answer ID
NoneCopyright http://snomed.info/sct ID:260413007 None (qualifier value)

Screen time

LA137-2
Carnitine palmitoyltransferase type I deficiencyCopyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) LA12485-1
Carnitine uptake deficiency/carnitine transport defectCopyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) LA12487-7
CPT-II or CACT LA12573-4
LCHAD or TFP LA12574-2
Medium-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) LA12509-8
MCAD or SCAD or GA-2(MADD) LA12575-9
SCAD or EMA or IBG or GA-2 (MADD) LA12576-7
Very long-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) LA12531-2
2,4-Dienoyl-CoA reductase deficiencyCopyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) LA12489-3
Carnitine acylcarnitine translocase deficiencyCopyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) LA12475-2
Carnitine palmitoyltransferase type II deficiencyCopyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) LA12486-9
Glutaric acidemia type IICopyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) LA12495-0
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LA12507-2
Carnitine uptake deficiency/carnitine transport defect (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) LA12488-5
Medium-chain ketoacyl-CoA thiolase deficiencyCopyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) LA12511-4
Short-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) LA12525-4
Trifunctional protein deficiencyCopyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) LA12527-0
CUD or CUD (mat) or CPT-Ia LA12916-5
GA-1 or GA-2 LA12917-3
X-linked adrenoleukodystrophyCopyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) LA25796-6

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.61
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
58092-8 Acylcarnitine newborn screen panel
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Condiciones de oxidación de ácidos grasos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Sospecha de condiciones de oxidación de ácidos grasos:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Oxydation des acides gras conditions suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Conditions suspectes d'oxydation des acides gras:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Acidi grassi, condizioni sospette di ossidazione:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Condizioni sospette di ossidazione degli acidi gra Ossidazione degli acidi grassi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) vetzuuroxidatie omstandigheden vermoed:identificator:moment:gedroogde bloedspot:nominaal:
pl-PL Polish (Poland) Badanie statusu utlenienie kwasów tłuszczowych:wykrycie lub identyfikacja:punkt w czasie:sucha kropla krwi:cecha:
pt-BR Portuguese (Brazil) Condições suspeitas de oxidação de ácidos graxos:Ident:Pt:SgPapel:Nom:
Synonyms: ; FA oxidation conditions suspected; FAO; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Acd; Acids; Chemistry
ru-RU Russian (Russian Federation) Жирная кислота окисление состояние заподозрены:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Yağ asidi oksidasyonu koşulları şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 疑似脂肪酸氧化障碍:存在与否或特征标识:时间点:全血.斑点:名义型:
Synonyms: FAO 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 疑似脂肪酸氧化功能障碍;怀疑脂肪酸氧化障碍 血;血液 酸

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=57792-4