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
- Component
- Newborn conditions with positive markers
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB conditions positive DBS
- Display Name
- Newborn conditions with positive markers Nom (DBS)
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
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^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 |
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)
- 带有阳性标志的新生儿健康状况:
存在与否或特征标识: 时间点: 全血.斑点: 名义型: - fr-BEFrench (BELGIUM)
- Conditions néonatales avec marqueurs positifs:
Présence ou identité: Temps ponctuel: Sang sur papier filtre: Nominal: - fr-FRFrench (FRANCE)
- Newborn conditions with positive markers:
Prid: Pt: Bld.dot: Nom: - 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-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:
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=57131-5
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