LOINC
Version 2.67

LL835-0NBS conditions / Newborn screen conditionsActive

Basic Properties

OID
1.3.6.1.4.1.12009.10.1.3266
Name
NBS conditions
Description
Newborn screen conditions
Externally Defined
False
Answers Shown
132
LOINCs Using This List
2
Source Name
Regenstrief Institute

Answer List

Answer Code Score Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) LA137-2
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) HEAR LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) 2MBG LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) 3-MCC LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) 3-MCC (mat) LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) 3MGA LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) 5-OXO LA12469-5
Argininemia ARG LA21161-7
Argininosuccinic aciduria ASA LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) BIOPT-BS LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) BIOPT-REG LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) BKT LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) CACT LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) CBL A LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) CBL B LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) CBL C LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) CBL D LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) CBL E LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) CBL G LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) CIT-I LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) CIT-II LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) CPS LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) CPT-Ia LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) CPT-II LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) CUD LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) CUD (mat) LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) De-Red LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) E3 LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) EMA LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) FIGLU LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) GA-1 LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) GA-1 (mat) LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) GA-2 LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) HCY LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) HHH LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) HIS LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) HMG LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) H-PHE LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) Hyper LYS LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) Hyper ORN LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) Hyper VAL LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) IBG LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) IVA LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) LACTIC LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LCHAD LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) MAL LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) MCAD LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) MCD LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) MCKAT LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) MET LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) MSUD LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) MTHFR LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) MUT LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) NKHG LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) OH PRO LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) OTC LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) PC LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) PKU LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) PRO I LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) PRO II LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) PROP LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) SCHAD LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) SUCLA2 LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) TFP LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) TYR-I LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) TYR-II LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) TYR-III LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) VLCAD LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) BIO LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) CAH LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) CF LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) CH LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) CH2 LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) G6PD LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) GALE LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) GALT LA12542-9
Classical galactosemia LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) LA12604-7
Hb O-Arab carrier LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) LA12608-8
Hb D-disease LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 beta^0^ Thalassemia (disorder) LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder) LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA12621-1
Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) HIV LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) SCID LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) TBG LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) TOXO 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 Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) GLA LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease, type II (disorder) GAA LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) GALC LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) GBA LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) ASM LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA16207-5
Critical congenital heart disease CCHD LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) X-ALD LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) MPS-I LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Guanidinoacetate methyltransferase deficiency (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 L-arginine:glycine amidinotransferase deficiency (disorder) AGAT LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) CRTR LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) SMA LA22279-6

LOINC FHIR® API Examples - CodeSystem and ValueSet Requests Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LL835-0 https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL835-0

LOINC Terms That Use This Answer List

57720-5 Newborn conditions with equivocal markers [Identifier] in DBS
57131-5 Newborn conditions with positive markers [Identifier] in DBS