LL835-0
NBS conditions
- Answer list
- LL835-0
- Answers
- 135
Answers
| Answer | Code | Score |
|---|---|---|
| None | LA137-2 | |
| Hearing loss | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria | LA12464-6 | |
| 2-Methylbutyrylglycinuria | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) | LA12467-9 | |
| 3-Methylglutaconic aciduria | LA12468-7 | |
| Pyroglutamic acidemia | LA12469-5 | |
| Argininemia | LA21161-7 | |
| Argininosuccinic aciduria | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis | LA12472-9 | |
| Biopterin defect in cofactor regeneration | LA12473-7 | |
| Beta-ketothiolase deficiency | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency | LA12475-2 | |
| Cobalamin A disease | LA12476-0 | |
| Cobalamin B disease | LA12477-8 | |
| Cobalamin C disease | LA12478-6 | |
| Cobalamin D disease | LA12479-4 | |
| Cobalamin E disease | LA12480-2 | |
| CBL G type Methylcobalamin deficiency | LA12481-0 | |
| Citrullinemia, type I | LA12482-8 | |
| Citrullinemia, type II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency | LA12490-1 | |
| Ethylmalonic encephalopathy | LA12491-9 | |
| Formiminoglutamic acidemia | LA12492-7 | |
| Glutaric acidemia type I | LA12493-5 | |
| Glutaric acidemia (maternal) | LA12494-3 | |
| Glutaric acidemia type II | LA12495-0 | |
| Homocystinuria | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | LA12497-6 | |
| Histidinemia | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) | LA12500-7 | |
| Hyperlysinemia | LA12501-5 | |
| Girate atrophy of the retina | LA12502-3 | |
| Valinemia | LA12503-1 | |
| Isobutyrylglycinuria | LA12504-9 | |
| Isovaleric acidemia | LA12505-6 | |
| Primary lactic acidemia | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency | LA12507-2 | |
| Malonic acidemia | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency | LA12509-8 | |
| Holoocarboxylase synthase deficiency | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency | LA12511-4 | |
| Hypermethioninemia | LA12512-2 | |
| Maple syrup urine disease | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency | LA12514-8 | |
| Methylmalonic acidemia | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) | LA12516-3 | |
| Hydroxyprolinemia | LA12517-1 | |
| Ornithine transcarbamylase deficiency | LA12518-9 | |
| Pyruvate carboxylase deficiency | LA12519-7 | |
| Classic phenylketonuria | LA12520-5 | |
| Hyperprolinemia type I | LA12521-3 | |
| Hyperprolinemia type II | LA12522-1 | |
| Propionic acidemia | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency | LA12525-4 | |
| Succinyl-CoA ligase deficiency | LA12526-2 | |
| Trifunctional protein deficiency | LA12527-0 | |
| Tyrosinemia, type I | LA12528-8 | |
| Tyrosinemia, type II | LA12529-6 | |
| Tyrosinemia, type III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency | LA12531-2 | |
| Biotinidase deficiency | LA12532-0 | |
| Congenital adrenal hyperplasia | LA12533-8 | |
| Cystic fibrosis | LA22202-8 | |
| Primary congenital hypothyroidism | LA12538-7 | |
| Secondary congenital hypothyroidism | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency | LA12540-3 | |
| Galactoepimerase deficiency | LA12541-1 | |
| Galactokinase deficiency | LA12542-9 | |
| Classical galactosemia | LA21165-8 | |
| Hb C-carrier | LA12602-1 | |
| Hb D-carrier | LA12603-9 | |
| Hb E-carrier | LA12604-7 | |
| Hb O-Arab carrier | LA12605-4 | |
| Hb S (sickle)-carrier | LA12606-2 | |
| Hb C-disease | LA12607-0 | |
| Hb C beta-thalassemia | LA12608-8 | |
| Hb D-disease | LA12609-6 | |
| Hb D beta-thalassemia | LA12610-4 | |
| Hb beta zero-thalassemia | LA12611-2 | |
| Hb E-disease | LA12612-0 | |
| Hb E beta-thalassemia | LA12613-8 | |
| Hb SS-disease (sickle cell anemia) | LA12614-6 | |
| Hb S beta-thalassemia | LA12615-3 | |
| Hb SC-disease | LA12616-1 | |
| Hb SD-disease | LA12617-9 | |
| Hb SE-disease | LA12618-7 | |
| Hb S O-Arab disease | LA12619-5 | |
| Hb S plus Hb other than A,C,D,E,O-Arab disease | LA12620-3 | |
| Hb disease other than A, C, D, E, H,O-Arab, S | LA12621-1 | |
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | |
| Congenital HIV | LA12565-0 | |
| Severe combined immunodeficiency | LA12566-8 | |
| Thyroid-binding globulin deficiency | LA12567-6 | |
| Congenital toxoplasmosis | LA12568-4 | |
| 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 | |
| CPT-II or CACT | LA12573-4 | |
| LCHAD or TFP | LA12574-2 | |
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | |
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | |
| 2M3HBA or BKT-2 | LA12577-5 | |
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | |
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | |
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | |
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | |
| GA-1 or GA-2 | LA12917-3 | |
| Fabry disease | LA14036-0 | |
| Pompe disease | LA14037-8 | |
| Krabbe disease | LA14038-6 | |
| Gaucher disease | LA14039-4 | |
| Niemann Pick disease A/B | LA14040-2 | |
| Hb H-disease | LA16007-9 | |
| Hemoglobinopathies | LA16207-5 | |
| Critical congenital heart disease | LA20349-9 | |
| X-linked adrenoleukodystrophy | LA25796-6 | |
| Mucopolysaccharidosis type I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency | LA30492-5 | |
| Spinal muscular atrophy | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | |
| Mucopolysaccharidosis type II (disorder) | LA34470-7 | |
| Duchenne muscular dystrophy | LA34569-6 |