LOINC
Version 2.70

57793-2Amino acidemia disorder suspected [Identifier] in DBSActive

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
Amino acidemia disorder suspected, Dried blood spot

Preferred Answer List LL837-6

Source: Regenstrief Institute

Answer Code Score Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) 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 disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) LA21168-2
Argininemia LA21161-7
Argininosuccinic aciduria LA21162-5
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) LA12484-4
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) LA12483-6
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) LA12490-1
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) LA12473-7
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) LA12502-3
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) LA12512-2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright 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 I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) LA12522-1
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) LA12480-2
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) LA30114-5
Methylene tetrahydrofolate reductase deficiency Copyright 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 deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) LA12518-9
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) LA12520-5
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) LA12469-5
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) LA12519-7
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) LA12530-4
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) LA12503-1
X-linked creatine transporter (CRTR) deficiency Copyright 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 2.61
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
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

zh-CNChinese (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:
nl-NLDutch (Netherlands)
aminozuuracidemiestoornis verdenking:identificator:moment:gedroogde bloedspot:nominaal:
fr-BEFrench (Belgium)
Maladie des Amino-acides suspectée:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FRFrench (France)
Aminoacidémie désordre suspecté:Identification:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)
Aminoacidemia, sospetto disturbo:Prid:Pt:Sangue.su carta da filtro:Nom:
pt-BRPortuguese (Brazil)
Suspeita de desordem de amino acidemia:Ident:Pt:SgPapel:Nom:
ru-RURussian (Russian Federation)
Амино ацидемия расстройство заподозрено:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
es-ESSpanish (Spain)
Sospecha de desorden de aminoacidemia:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
tr-TRTurkish (Turkey)
Amino asidemi bozukluğu şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=57793-2