Version 2.77

Basic Properties

NBS AA susc
Newborn screening amino acidemias suspected
LOINCs using this list

Answer List

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

LOINC terms using this Answer List

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

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