Version 2.73

57131-5Newborn conditions with positive markers [Identifier] in DBSActive

Term Description

This variable list the conditions that that the markers suggest may be present. It is a coded result intended for easy access by decision support systems to identify the cases that need special attention. The LOINC code will include an answer list that covers all of the conditions screened for by any state. States would only make statements about the conditions they screen for. (This item is still under discussion by the NBS community and subject to change)
Source: Regenstrief LOINC

Fully-Specified Name

Newborn conditions with positive markers

Additional Names

Short Name
NB conditions positive DBS
Display Name
Newborn conditions with positive markers Nom (DBS)
Consumer Name Alpha
Newborn conditions with positive markers, Dried blood spot

Preferred Answer List LL835-0

Source: Regenstrief Institute

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 zero 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 Sickle cell-hemoglobin SS disease (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)

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 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)

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 disease Copyright http://snomed.info/sct 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 disease Copyright http://snomed.info/sct 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 disease Copyright http://snomed.info/sct 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/B Copyright http://snomed.info/sct 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-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

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 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 Deficiency of guanidinoacetate methyltransferase (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (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

Basic Attributes

First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Common US Lab Results Rank

Member of these Panels

LOINC Long Common Name
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

zh-CNChinese (China)
fr-BEFrench (Belgium)
Conditions néonatales avec marqueurs positifs:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FRFrench (France)
Conditions néonatales avec marqueurs présents:Identification:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)
Neonato, condizioni con marcatori positivi:Prid:Pt:Sangue.su carta da filtro:Nom:
pt-BRPortuguese (Brazil)
Condições de recém-nascidos com marcadores positivos:Ident:Pt:SgPapel:Nom:
ru-RURussian (Russian Federation)
Новорождённый состояния с позитивными маркерами:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
es-MXSpanish (Mexico)
Condiciones del recién nacido con marcadores positivos:Presencia o identidad:Punto temporal:DBS:Nominal:
es-ESSpanish (Spain)
Estado del recién nacido con marcadores positivos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
tr-TRTurkish (Turkey)
Pozitif belirteçli yenidoğan durumları:MevcKimlik:Zmlı:Kan.nokta:Snf:

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