Version 2.77

Basic Properties

NBS OA susc
Newborn screening organic acidemias suspected
LOINCs using this list

Answer List

Answer Code Score Answer ID
NoneCopyright ID:260413007 None (qualifier value) LA137-2
2M3HBA or BKT-2 LA12577-5
Glutaric acidemia type ICopyright ID:76175005 Glutaric aciduria, type 1 (disorder) LA12493-5
IVA or 2MBG or GA-2 or EMA LA12578-3
Malonic acidemiaCopyright ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) LA12508-0
PROP or CBL A or CBL B or MUT or CBL C or MCD LA12579-1
2-Methyl-3-hydroxybutyric aciduriaCopyright ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-MethylbutyrylglycinuriaCopyright ID:445596006 2-methylbutyrylglycinuria (disorder) LA12465-3
3-Hydroxy-3-methylglutaric aciduriaCopyright ID:410059004 Hydroxymethylglutaric aciduria (disorder) LA12499-2
3-Methylcrotonyl-CoA carboxylase deficiencyCopyright ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) LA12466-1
Beta-ketothiolase deficiencyCopyright ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) LA12474-5
Ethylmalonic encephalopathyCopyright ID:723307008 Ethylmalonic encephalopathy (disorder) LA12491-9
Formiminoglutamic acidemiaCopyright ID:59761008 Glutamate formiminotransferase deficiency (disorder) LA12492-7
IsobutyrylglycinuriaCopyright ID:445571008 Isobutyrylglycinuria (disorder) LA12504-9
Isovaleric acidemiaCopyright ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) LA12505-6
3-Methylcrotonyl-CoA carboxylase deficiency (maternal)Copyright ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) LA12467-9
Cobalamin A diseaseCopyright ID:73843004 Cobalamin A disease (disorder) LA12476-0
Cobalamin B diseaseCopyright ID:82245003 Cobalamin B disease (disorder) LA12477-8
Methylmalonic acidemiaCopyright ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) LA12515-5
Cobalamin C diseaseCopyright ID:74653006 Cobalamin C disease (disorder) LA12478-6
Cobalamin D diseaseCopyright ID:31220004 Cobalamin D disease (disorder) LA12479-4
Holoocarboxylase synthase deficiencyCopyright ID:360369003 Holocarboxylase synthase deficiency (disorder) LA12510-6
Primary lactic acidemiaCopyright ID:190882007 Lactic acidemia (disorder) LA12506-4
Propionic acidemiaCopyright ID:69080001 Propionic acidemia (disorder) LA12523-9
Succinyl-CoA ligase deficiencyCopyright ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) LA12526-2
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO LA12915-7
GA-1 or GA-2 LA12917-3

LOINC terms using this Answer List

57791-6 Organic acidemia conditions suspected [Identifier] in DBS

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