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LOINC Answer List LL837-6 : NBS AA susc

Properties

Answer None LA137-2
Answer CIT-I or CIT-II or ASA LA12569-2
Answer HCY or MET or CBL C LA12570-0
Answer PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8
Answer TYR-1 or TYR-II or TYR-III LA12572-6
Answer Maple syrup urine disease LA21168-2
Answer Argininemia LA21161-7
Answer Argininosuccinic aciduria LA21162-5
Answer Carbamoyl-phosphate synthase deficiency LA12484-4
Answer Citrullinemia, type I LA12482-8
Answer Citrullinemia, type II LA12483-6
Answer Dihydrolipoamide dehydrogenase deficiency LA12490-1
Answer Biopterin defect in cofactor biosynthesis LA12472-9
Answer Biopterin defect in cofactor regeneration LA12473-7
Answer Girate atrophy of the retina LA12502-3
Answer Hypermethioninemia LA12512-2
Answer Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome LA12497-6
Answer Hyperphenylalaninemia (variant, benign) LA12500-7
Answer Hyperprolinemia type I LA12521-3
Answer Hyperprolinemia type II LA12522-1
Answer Cobalamin E disease LA12480-2
Answer Guanidinoacetate N-methyltransferase deficiency LA30113-7
Answer L-arginine:glycine amidinotransferase deficiency LA30114-5
Answer Methylene tetrahydrofolate reductase deficiency LA12514-8
Answer Nonketotic hyperglycinemia (glycine encephalopathy) LA12516-3
Answer Ornithine transcarbamylase deficiency LA12518-9
Answer Classic phenylketonuria LA12520-5
Answer Pyroglutamic acidemia LA12469-5
Answer Pyruvate carboxylase deficiency LA12519-7
Answer Tyrosinemia, type I LA12528-8
Answer Tyrosinemia, type II LA12529-6
Answer Tyrosinemia, type III LA12530-4
Answer Valinemia LA12503-1
Answer X-linked creatine transporter (CRTR) deficiency LA30492-5
answers-for Amino acidemia disorder suspected [Identifier] in DBS 57793-2

Displays

LONG_COMMON_NAME en-US NBS AA susc

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