Version 2.77

Basic Properties

NBS FA susc
Newborn screening fatty acid oxidation defects suspected
LOINCs using this list

Answer List

Answer Code Score Answer ID
NoneCopyright ID:260413007 None (qualifier value) LA137-2
Carnitine palmitoyltransferase type I deficiencyCopyright ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) LA12485-1
Carnitine uptake deficiency/carnitine transport defectCopyright ID:21764004 Renal carnitine transport defect (disorder) LA12487-7
CPT-II or CACT LA12573-4
LCHAD or TFP LA12574-2
Medium-chain acyl-CoA dehydrogenase deficiencyCopyright ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) LA12509-8
MCAD or SCAD or GA-2(MADD) LA12575-9
SCAD or EMA or IBG or GA-2 (MADD) LA12576-7
Very long-chain acyl-CoA dehydrogenase deficiencyCopyright ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) LA12531-2
2,4-Dienoyl-CoA reductase deficiencyCopyright ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) LA12489-3
Carnitine acylcarnitine translocase deficiencyCopyright ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) LA12475-2
Carnitine palmitoyltransferase type II deficiencyCopyright ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) LA12486-9
Glutaric acidemia type IICopyright ID:22886006 Glutaric aciduria, type 2 (disorder) LA12495-0
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiencyCopyright ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LA12507-2
Carnitine uptake deficiency/carnitine transport defect (maternal)Copyright ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) LA12488-5
Medium-chain ketoacyl-CoA thiolase deficiencyCopyright ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) LA12511-4
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) LA12525-4
Trifunctional protein deficiencyCopyright ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) LA12527-0
CUD or CUD (mat) or CPT-Ia LA12916-5
GA-1 or GA-2 LA12917-3
X-linked adrenoleukodystrophyCopyright ID:65389002 Adrenoleukodystrophy (disorder) LA25796-6

LOINC terms using this Answer List

57792-4 Fatty acid oxidation conditions suspected [Identifier] in DBS

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