Version 2.78

Fully-Specified Name

Component
Amino acidemia disorder suspected
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Amino acidemia disorder suspected DBS
Display Name
Amino acidemia disorder suspected Nom (DBS)
Consumer Name Alpha Get Info
Amino acidemia disorder suspected, Dried blood spot

Preferred Answer List: LL837-6

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

Screen time

 LA137-2
CIT-I or CIT-II or ASA LA12569-2
HCY or MET or CBL C LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8
TYR-1 or TYR-II or TYR-III LA12572-6
Maple syrup urine diseaseCopyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) LA21168-2
Argininemia LA21161-7
Argininosuccinic aciduria LA21162-5
Carbamoyl-phosphate synthase deficiencyCopyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) LA12484-4
Citrullinemia, type ICopyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) LA12482-8
Citrullinemia, type IICopyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) LA12483-6
Dihydrolipoamide dehydrogenase deficiencyCopyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) LA12490-1
Biopterin defect in cofactor biosynthesisCopyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) LA12472-9
Biopterin defect in cofactor regenerationCopyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) LA12473-7
Girate atrophy of the retinaCopyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) LA12502-3
HypermethioninemiaCopyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) LA12512-2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeCopyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) LA12497-6
Hyperphenylalaninemia (variant, benign)Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) LA12500-7
Hyperprolinemia type ICopyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) LA12521-3
Hyperprolinemia type IICopyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) LA12522-1
Cobalamin E diseaseCopyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) LA12480-2
Guanidinoacetate N-methyltransferase deficiencyCopyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) LA30113-7
L-arginine:glycine amidinotransferase deficiencyCopyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) LA30114-5
Methylene tetrahydrofolate reductase deficiencyCopyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) LA12514-8
Nonketotic hyperglycinemia (glycine encephalopathy)Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) LA12516-3
Ornithine transcarbamylase deficiencyCopyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) LA12518-9
Classic phenylketonuriaCopyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) LA12520-5
Pyroglutamic acidemiaCopyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) LA12469-5
Pyruvate carboxylase deficiencyCopyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) LA12519-7
Tyrosinemia, type ICopyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) LA12528-8
Tyrosinemia, type IICopyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) LA12529-6
Tyrosinemia, type IIICopyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) LA12530-4
ValinemiaCopyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) LA12503-1
X-linked creatine transporter (CRTR) deficiencyCopyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) LA30492-5

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation
Common Test Rank Get Info
2318

Member of these Panels

LOINC Long Common Name
53261-4 Amino acid 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 desorden de aminoacidemia:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Sospecha de trastorno por aminoacidemia:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Aminoacidémie désordre suspecté:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie des Amino-acides suspectée:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Aminoacidemia, sospetto disturbo:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Sospetto disturbo di aminoacidemia Spot sangue secco
nl-NL Dutch (Netherlands) aminozuuracidemiestoornis verdenking:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Suspeita de desordem de amino acidemia:Ident:Pt:SgPapel:Nom:
Synonyms: 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) Амино ацидемия расстройство заподозрено:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Заподозрено аминоацидурическое расстройство Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asidemi bozukluğu şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 疑似氨基酸血症: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 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=57793-2