Version 2.78

Fully-Specified Name

Component
Organic acidemia conditions suspected
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
OA conditions suspected DBS
Display Name
Organic acidemia conditions suspected Nom (DBS)
Consumer Name Alpha Get Info
Organic acidemia conditions suspected, Dried blood spot

Preferred Answer List: LL839-2

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

Screen time

 LA137-2
2M3HBA or BKT-2 LA12577-5
Glutaric acidemia type ICopyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) LA12493-5
IVA or 2MBG or GA-2 or EMA LA12578-3
Malonic acidemiaCopyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) LA12508-0
PROP or CBL A or CBL B or MUT or CBL C or MCD LA12579-1
2-Methyl-3-hydroxybutyric aciduriaCopyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-MethylbutyrylglycinuriaCopyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) LA12465-3
3-Hydroxy-3-methylglutaric aciduriaCopyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) LA12499-2
3-Methylcrotonyl-CoA carboxylase deficiencyCopyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) LA12466-1
Beta-ketothiolase deficiencyCopyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) LA12474-5
Ethylmalonic encephalopathyCopyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) LA12491-9
Formiminoglutamic acidemiaCopyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) LA12492-7
IsobutyrylglycinuriaCopyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) LA12504-9
Isovaleric acidemiaCopyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) LA12505-6
3-Methylcrotonyl-CoA carboxylase deficiency (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) LA12467-9
Cobalamin A diseaseCopyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) LA12476-0
Cobalamin B diseaseCopyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) LA12477-8
Methylmalonic acidemiaCopyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) LA12515-5
Cobalamin C diseaseCopyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) LA12478-6
Cobalamin D diseaseCopyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) LA12479-4
Holoocarboxylase synthase deficiencyCopyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) LA12510-6
Primary lactic acidemiaCopyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) LA12506-4
Propionic acidemiaCopyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) LA12523-9
Succinyl-CoA ligase deficiencyCopyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) LA12526-2
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO LA12915-7
GA-1 or GA-2 LA12917-3

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) Sospecha de estado de acidemia orgánica:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Sospecha de condiciones de acidemia orgánica:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Acidémie organiques suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Acidemia organica, condizioni sospette:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Condizioni sospette di acidemia organica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) organische acidemie aandoeningen vermoed:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Condições acidemia orgânica suspeita:Ident:Pt:SgPapel:Nom:
Synonyms: ; OA conditions suspected; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU Russian (Russian Federation) Органическая ацидемия состояния заподозрены:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Органическая ацидурия состояния заподозрены Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Organik asidemi koşulları şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 所怀疑的有机酸血症情况:存在与否或特征标识:时间点:全血.斑点:名义型:
Synonyms: 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 所怀疑的有机酸血症;已怀疑的有机酸血症 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=57791-6