Version 2.77

Basic Properties

NBS conditions
Newborn screen conditions
LOINCs using this list

Answer List

Answer Code Score Answer ID
NoneCopyright ID:260413007 None (qualifier value) LA137-2
Hearing lossCopyright ID:15188001 Hearing loss (disorder) HEAR LA24366-9
2-Methyl-3-hydroxybutyric aciduriaCopyright ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-MethylbutyrylglycinuriaCopyright ID:445596006 2-methylbutyrylglycinuria (disorder) 2MBG LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiencyCopyright ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) 3-MCC LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal)Copyright ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) 3-MCC (mat) LA12467-9
3-Methylglutaconic aciduriaCopyright ID:237950009 3-Methylglutaconic aciduria (disorder) 3MGA LA12468-7
Pyroglutamic acidemiaCopyright 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 biosynthesisCopyright ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) BIOPT-BS LA12472-9
Biopterin defect in cofactor regenerationCopyright ID:58256000 Dihydropteridine reductase deficiency (disorder) BIOPT-REG LA12473-7
Beta-ketothiolase deficiencyCopyright ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) BKT LA12474-5
Carnitine acylcarnitine translocase deficiencyCopyright ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) CACT LA12475-2
Cobalamin A diseaseCopyright ID:73843004 Cobalamin A disease (disorder) CBL A LA12476-0
Cobalamin B diseaseCopyright ID:82245003 Cobalamin B disease (disorder) CBL B LA12477-8
Cobalamin C diseaseCopyright ID:74653006 Cobalamin C disease (disorder) CBL C LA12478-6
Cobalamin D diseaseCopyright ID:31220004 Cobalamin D disease (disorder) CBL D LA12479-4
Cobalamin E diseaseCopyright ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) CBL E LA12480-2
CBL G type Methylcobalamin deficiencyCopyright ID:721187005 Methylcobalamin deficiency type cbl G (disorder) CBL G LA12481-0
Citrullinemia, type ICopyright ID:398680004 Citrullinemia (disorder) CIT-I LA12482-8
Citrullinemia, type IICopyright ID:716863007 Citrullinemia type II (disorder) CIT-II LA12483-6
Carbamoyl-phosphate synthase deficiencyCopyright ID:62522004 Congenital hyperammonemia, type I (disorder) CPS LA12484-4
Carnitine palmitoyltransferase type I deficiencyCopyright ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) CPT-Ia LA12485-1
Carnitine palmitoyltransferase type II deficiencyCopyright ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) CPT-II LA12486-9
Carnitine uptake deficiency/carnitine transport defectCopyright ID:21764004 Renal carnitine transport defect (disorder) CUD LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal)Copyright ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) CUD (mat) LA12488-5
2,4-Dienoyl-CoA reductase deficiencyCopyright ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) De-Red LA12489-3
Dihydrolipoamide dehydrogenase deficiencyCopyright ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) E3 LA12490-1
Ethylmalonic encephalopathyCopyright ID:723307008 Ethylmalonic encephalopathy (disorder) EMA LA12491-9
Formiminoglutamic acidemiaCopyright ID:59761008 Glutamate formiminotransferase deficiency (disorder) FIGLU LA12492-7
Glutaric acidemia type ICopyright ID:76175005 Glutaric aciduria, type 1 (disorder) GA-1 LA12493-5
Glutaric acidemia (maternal)Copyright ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) GA-1 (mat) LA12494-3
Glutaric acidemia type IICopyright ID:22886006 Glutaric aciduria, type 2 (disorder) GA-2 LA12495-0
HomocystinuriaCopyright ID:11282001 Homocystinuria (disorder) HCY LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeCopyright ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) HHH LA12497-6
HistidinemiaCopyright ID:410058007 Histidinemia (disorder) HIS LA12498-4
3-Hydroxy-3-methylglutaric aciduriaCopyright ID:410059004 Hydroxymethylglutaric aciduria (disorder) HMG LA12499-2
Hyperphenylalaninemia (variant, benign)Copyright ID:68528007 Hyperphenylalaninemia (disorder) H-PHE LA12500-7
HyperlysinemiaCopyright ID:58558003 Hyperlysinemia (disorder) Hyper LYS LA12501-5
Girate atrophy of the retinaCopyright ID:314467007 Gyrate atrophy (disorder) Hyper ORN LA12502-3
ValinemiaCopyright ID:47719001 Hypervalinemia (disorder) Hyper VAL LA12503-1
IsobutyrylglycinuriaCopyright ID:445571008 Isobutyrylglycinuria (disorder) IBG LA12504-9
Isovaleric acidemiaCopyright ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) IVA LA12505-6
Primary lactic acidemiaCopyright ID:190882007 Lactic acidemia (disorder) LACTIC LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiencyCopyright ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LCHAD LA12507-2
Malonic acidemiaCopyright ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) MAL LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiencyCopyright ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) MCAD LA12509-8
Holoocarboxylase synthase deficiencyCopyright ID:360369003 Holocarboxylase synthase deficiency (disorder) MCD LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiencyCopyright ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) MCKAT LA12511-4
HypermethioninemiaCopyright ID:43123004 Hypermethioninemia (disorder) MET LA12512-2
Maple syrup urine diseaseCopyright ID:27718001 Maple syrup urine disease (disorder) MSUD LA21168-2
Methylene tetrahydrofolate reductase deficiencyCopyright ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) MTHFR LA12514-8
Methylmalonic acidemiaCopyright ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) MUT LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy)Copyright ID:237939006 Non-ketotic hyperglycinemia (disorder) NKHG LA12516-3
HydroxyprolinemiaCopyright ID:25739007 Hyperhydroxyprolinemia (disorder) OH PRO LA12517-1
Ornithine transcarbamylase deficiencyCopyright ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) OTC LA12518-9
Pyruvate carboxylase deficiencyCopyright ID:87694001 Pyruvate carboxylase deficiency (disorder) PC LA12519-7
Classic phenylketonuriaCopyright ID:7573000 Classical phenylketonuria (disorder) PKU LA12520-5
Hyperprolinemia type ICopyright ID:61071003 Proline dehydrogenase deficiency (disorder) PRO I LA12521-3
Hyperprolinemia type IICopyright ID:717181004 Hyperprolinemia type 2 (disorder) PRO II LA12522-1
Propionic acidemiaCopyright ID:69080001 Propionic acidemia (disorder) PROP LA12523-9
Short-chain acyl-CoA dehydrogenase deficiencyCopyright ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencyCopyright ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) SCHAD LA12525-4
Succinyl-CoA ligase deficiencyCopyright ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) SUCLA2 LA12526-2
Trifunctional protein deficiencyCopyright ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) TFP LA12527-0
Tyrosinemia, type ICopyright ID:410056006 Tyrosinemia type I (disorder) TYR-I LA12528-8
Tyrosinemia, type IICopyright ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) TYR-II LA12529-6
Tyrosinemia, type IIICopyright ID:415764005 Tyrosinemia type III (disorder) TYR-III LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiencyCopyright ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) VLCAD LA12531-2
Biotinidase deficiencyCopyright ID:8808004 Biotinidase deficiency (disorder) BIO LA12532-0
Congenital adrenal hyperplasiaCopyright ID:237751000 Congenital adrenal hyperplasia (disorder) CAH LA12533-8
Cystic fibrosisCopyright ID:190905008 Cystic fibrosis (disorder) CF LA22202-8
Primary congenital hypothyroidismCopyright ID:190268003 Congenital hypothyroidism (disorder) CH LA12538-7
Secondary congenital hypothyroidismCopyright ID:82598004 Secondary hypothyroidism (disorder) CH2 LA12539-5
Glucose-6-phosphate dehydrogenase deficiencyCopyright ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) G6PD LA12540-3
Galactoepimerase deficiencyCopyright ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) GALE LA12541-1
Galactokinase deficiencyCopyright ID:124302001 Deficiency of galactokinase (disorder) GALT LA12542-9
Classical galactosemia LA21165-8
Hb C-carrierCopyright ID:76050008 Hemoglobin C trait (disorder) LA12602-1
Hb D-carrierCopyright ID:7391009 Hemoglobin D trait (disorder) LA12603-9
Hb E-carrierCopyright ID:46248003 Hemoglobin E trait (disorder) LA12604-7
Hb O-Arab carrier LA12605-4
Hb S (sickle)-carrierCopyright ID:16402000 Sickle cell trait (disorder) LA12606-2
Hb C-diseaseCopyright ID:51053007 Hemoglobin C disease (disorder) LA12607-0
Hb C beta-thalassemiaCopyright ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) LA12608-8
Hb D-disease LA12609-6
Hb D beta-thalassemiaCopyright ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) LA12610-4
Hb beta zero-thalassemiaCopyright ID:86715000 Beta zero thalassemia (disorder) LA12611-2
Hb E-diseaseCopyright ID:25065001 Hemoglobin E disease (disorder) LA12612-0
Hb E beta-thalassemiaCopyright ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) LA12613-8
Hb SS-disease (sickle cell anemia)Copyright ID:127040003 Sickle cell-hemoglobin SS disease (disorder) LA12614-6
Hb S beta-thalassemiaCopyright ID:127041004 Sickle cell-beta-thalassemia (disorder) LA12615-3
Hb SC-diseaseCopyright ID:35434009 Sickle cell-hemoglobin C disease (disorder) LA12616-1
Hb SD-diseaseCopyright ID:25472008 Sickle cell-hemoglobin D disease (disorder) LA12617-9
Hb SE-diseaseCopyright ID:47024008 Sickle cell-hemoglobin E disease (disorder) LA12618-7
Hb S O-Arab diseaseCopyright ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab diseaseCopyright ID:23269001 Double heterozygous sickling disorder (disorder) LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, SCopyright ID:80141007 Hemoglobinopathy (disorder) LA12621-1
Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Congenital HIVCopyright ID:52079000 Congenital human immunodeficiency virus infection (disorder) HIV LA12565-0
Severe combined immunodeficiencyCopyright ID:31323000 Severe combined immunodeficiency disease (disorder)

Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.

SCID LA12566-8
Thyroid-binding globulin deficiencyCopyright ID:237544006 Thyroid-binding globulin deficiency (disorder) TBG LA12567-6
Congenital toxoplasmosisCopyright 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 diseaseCopyright ID:16652001 Fabry's disease (disorder)

Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.

GLA LA14036-0
Pompe diseaseCopyright ID:274864009 Glycogen storage disease, type II (disorder)

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.

GAA LA14037-8
Krabbe diseaseCopyright ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder)

Krabbe disease is an inherited disorder that affects the nervous system. This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance.

GALC LA14038-6
Gaucher diseaseCopyright ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder)

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance.

GBA LA14039-4
Niemann Pick disease A/BCopyright ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder)

Niemann-Pick disease is an inherited disorder in which the body in unable to process fats and cholesterol properly. People with this condition have some combination of the following features: failure to thrive, an enlarged liver and spleen, neurological problems, frequent lung infections, an increased risk of abnormal blood clots, developmental delay, seizures, and poor muscle tone. Mutations in the SMPD1 gene causes Niemann-Pick disease; it has an autosomal recessive pattern of inheritance.

ASM LA14040-2
Hb H-diseaseCopyright ID:48553001 Hemoglobin H disease (disorder) LA16007-9
HemoglobinopathiesCopyright ID:80141007 Hemoglobinopathy (disorder) LA16207-5
Critical congenital heart disease

Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.

CCHD LA20349-9
X-linked adrenoleukodystrophyCopyright ID:65389002 Adrenoleukodystrophy (disorder) X-ALD LA25796-6
Mucopolysaccharidosis type ICopyright ID:75610003 Mucopolysaccharidosis type I (disorder) MPS-I LA25797-4
Guanidinoacetate N-methyltransferase deficiencyCopyright ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiencyCopyright ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) AGAT LA30114-5
X-linked creatine transporter (CRTR) deficiencyCopyright ID:698290008 X-linked creatine deficiency (disorder) CRTR LA30492-5
Spinal muscular atrophyCopyright ID:5262007 Spinal muscular atrophy (disorder) SMA LA22279-6

LOINC terms using this Answer List

104192-0 Guanidinoacetate methyltransferase deficiency newborn screen interpretation
104189-6 Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation
57720-5 Newborn conditions with equivocal markers [Identifier] in DBS
57131-5 Newborn conditions with positive markers [Identifier] in DBS

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