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LOINC Answer List LL841-8 : NBS conditions tested

Properties

Answer Hemoglobin C crystals LA11231-0
Answer Hearing loss LA24366-9
Answer 2-Methyl-3-hydroxybutyric aciduria LA12464-6
Answer 2-Methylbutyrylglycinuria LA12465-3
Answer 3-Methylcrotonyl-CoA carboxylase deficiency LA12466-1
Answer 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) LA12467-9
Answer 3-Methylglutaconic aciduria LA12468-7
Answer Pyroglutamic acidemia LA12469-5
Answer Argininemia LA21161-7
Answer Argininosuccinic aciduria LA21162-5
Answer Biopterin defect in cofactor biosynthesis LA12472-9
Answer Biopterin defect in cofactor regeneration LA12473-7
Answer Beta-ketothiolase deficiency LA12474-5
Answer Carnitine acylcarnitine translocase deficiency LA12475-2
Answer Cobalamin A disease LA12476-0
Answer Cobalamin B disease LA12477-8
Answer Cobalamin C disease LA12478-6
Answer Cobalamin D disease LA12479-4
Answer Cobalamin E disease LA12480-2
Answer CBL G type Methylcobalamin deficiency LA12481-0
Answer Citrullinemia, type I LA12482-8
Answer Citrullinemia, type II LA12483-6
Answer Carbamoyl-phosphate synthase deficiency LA12484-4
Answer Carnitine palmitoyltransferase type I deficiency LA12485-1
Answer Carnitine palmitoyltransferase type II deficiency LA12486-9
Answer Carnitine uptake deficiency/carnitine transport defect LA12487-7
Answer Carnitine uptake deficiency/carnitine transport defect (maternal) LA12488-5
Answer 2,4-Dienoyl-CoA reductase deficiency LA12489-3
Answer Dihydrolipoamide dehydrogenase deficiency LA12490-1
Answer Ethylmalonic encephalopathy LA12491-9
Answer Formiminoglutamic acidemia LA12492-7
Answer Glutaric acidemia type I LA12493-5
Answer Glutaric acidemia (maternal) LA12494-3
Answer Glutaric acidemia type II LA12495-0
Answer Homocystinuria LA12496-8
Answer Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome LA12497-6
Answer Histidinemia LA12498-4
Answer 3-Hydroxy-3-methylglutaric aciduria LA12499-2
Answer Hyperphenylalaninemia (variant, benign) LA12500-7
Answer Hyperlysinemia LA12501-5
Answer Girate atrophy of the retina LA12502-3
Answer Valinemia LA12503-1
Answer Isobutyrylglycinuria LA12504-9
Answer Isovaleric acidemia LA12505-6
Answer Primary lactic acidemia LA12506-4
Answer Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency LA12507-2
Answer Malonic acidemia LA12508-0
Answer Medium-chain acyl-CoA dehydrogenase deficiency LA12509-8
Answer Holoocarboxylase synthase deficiency LA12510-6
Answer Medium-chain ketoacyl-CoA thiolase deficiency LA12511-4
Answer Hypermethioninemia LA12512-2
Answer Maple syrup urine disease LA21168-2
Answer Methylene tetrahydrofolate reductase deficiency LA12514-8
Answer Methylmalonic acidemia LA12515-5
Answer Nonketotic hyperglycinemia (glycine encephalopathy) LA12516-3
Answer Hydroxyprolinemia LA12517-1
Answer Ornithine transcarbamylase deficiency LA12518-9
Answer Pyruvate carboxylase deficiency LA12519-7
Answer Classic phenylketonuria LA12520-5
Answer Hyperprolinemia type I LA12521-3
Answer Hyperprolinemia type II LA12522-1
Answer Propionic acidemia LA12523-9
Answer Short-chain acyl-CoA dehydrogenase deficiency LA12524-7
Answer Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency LA12525-4
Answer Succinyl-CoA ligase deficiency LA12526-2
Answer Trifunctional protein deficiency LA12527-0
Answer Tyrosinemia, type I LA12528-8
Answer Tyrosinemia, type II LA12529-6
Answer Tyrosinemia, type III LA12530-4
Answer Very long-chain acyl-CoA dehydrogenase deficiency LA12531-2
Answer Biotinidase deficiency LA12532-0
Answer Congenital adrenal hyperplasia LA12533-8
Answer Cystic fibrosis LA22202-8
Answer Primary congenital hypothyroidism LA12538-7
Answer Secondary congenital hypothyroidism LA12539-5
Answer Glucose-6-phosphate dehydrogenase deficiency LA12540-3
Answer Galactoepimerase deficiency LA12541-1
Answer Galactokinase deficiency LA12542-9
Answer Classical galactosemia LA21165-8
Answer Hb C-carrier LA12602-1
Answer Hb D-carrier LA12603-9
Answer Hb E-carrier LA12604-7
Answer Hb O-Arab carrier LA12605-4
Answer Hb S (sickle)-carrier LA12606-2
Answer Hb C-disease LA12607-0
Answer Hb C beta-thalassemia LA12608-8
Answer Hb D-disease LA12609-6
Answer Hb D beta-thalassemia LA12610-4
Answer Hb beta zero-thalassemia LA12611-2
Answer Hb E-disease LA12612-0
Answer Hb E beta-thalassemia LA12613-8
Answer Hb SS-disease (sickle cell anemia) LA12614-6
Answer Hb S beta-thalassemia LA12615-3
Answer Hb SC-disease LA12616-1
Answer Hb SD-disease LA12617-9
Answer Hb SE-disease LA12618-7
Answer Hb S O-Arab disease LA12619-5
Answer Hb S plus Hb other than A,C,D,E,O-Arab disease LA12620-3
Answer Hb disease other than A, C, D, E, H,O-Arab, S LA12621-1
Answer Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Answer Congenital HIV LA12565-0
Answer Severe combined immunodeficiency LA12566-8
Answer Thyroid-binding globulin deficiency LA12567-6
Answer Congenital toxoplasmosis LA12568-4
Answer Fabry disease LA14036-0
Answer Pompe disease LA14037-8
Answer Krabbe disease LA14038-6
Answer Gaucher disease LA14039-4
Answer Niemann Pick disease A/B LA14040-2
Answer Hb H-disease LA16007-9
Answer Hemoglobinopathies LA16207-5
Answer Critical congenital heart disease LA20349-9
Answer X-linked adrenoleukodystrophy LA25796-6
Answer Mucopolysaccharidosis type I LA25797-4
Answer Guanidinoacetate N-methyltransferase deficiency LA30113-7
Answer L-arginine:glycine amidinotransferase deficiency LA30114-5
Answer X-linked creatine transporter (CRTR) deficiency LA30492-5
Answer Spinal muscular atrophy LA22279-6
Answer Mucopolysaccharidosis type II (disorder) LA34470-7
Answer Deficiency of guanidinoacetate methyltransferase (disorder) LA34469-9
Answer Duchenne muscular dystrophy LA34569-6
answers-for Conditions tested for in this newborn screening study [Identifier] in DBS 57719-7

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