Version 2.77

Part Description

LP33025-5   Newborn screening panel
Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. Robert Guthrie is given much of the credit for pioneering the earliest screening for phenylketonuria in the late 1960s using blood samples on filter paper obtained by pricking a newborn baby's heel on the second day of life to get a few drops of blood. Congenital hypothyroidism was the second disease widely added in the 1970s. The development of tandem mass spectrometry screening by Edwin Naylor and others in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that affect blood levels of organic acids. Additional tests have been added to many screening programs over the last two decades. Newborn screening has been adopted by most countries around the world, though the lists of screened diseases vary widely. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Newborn screening

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
54089-8 Newborn screening panel American Health Information Community (AHIC)
Indent73738-7 Newborn screening test results panel - Point of Care
IndentIndent54111-0 Newborn hearing screening panel
IndentIndentIndent57700-7 Hearing loss newborn screening comment/discussion
IndentIndentIndent58232-0 Hearing loss risk indicators [Identifier]
IndentIndentIndent54106-0 Newborn hearing screen method
IndentIndentIndent73741-1 Newborn hearing screen panel - Left Ear
IndentIndentIndentIndent54108-6 Newborn hearing screen of Ear - left
IndentIndentIndentIndent73740-3 Screening duration of Ear - left min
IndentIndentIndentIndent73739-5 Newborn hearing screen reason not performed of Ear - left
IndentIndentIndent73744-5 Newborn hearing screen panel - Right Ear C
IndentIndentIndentIndent54109-4 Newborn hearing screen of Ear - right R 1..1
IndentIndentIndentIndent73743-7 Screening duration of Ear - right C 0..1 min
IndentIndentIndentIndent73742-9 Newborn hearing screen reason not performed of Ear - right C 0..*
IndentIndent73805-4 CCHD newborn screening panel
IndentIndentIndent73700-7 CCHD newborn screening interpretation
IndentIndentIndent73696-7 Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductal %
IndentIndentIndent73806-2 Newborn age in hours h
IndentIndentIndent73699-1 Number of prior CCHD screens [#] Qualitative
IndentIndentIndent73804-7 Oxygen saturation sensor name
IndentIndentIndent73803-9 Oxygen saturation sensor type
IndentIndentIndent73802-1 Oxygen saturation sensor wrap name
IndentIndentIndent73801-3 Oxygen saturation sensor wrap type
IndentIndentIndent73800-5 Oxygen saturation sensor wrap size
IndentIndentIndent73697-5 CCHD newborn screening protocol used [Type]
IndentIndentIndent73698-3 Reason CCHD oxygen saturation screening not performed
IndentIndentIndent59407-7 Oxygen saturation in Blood Preductal by Pulse oximetry %
IndentIndentIndent73799-9 Heart rate Blood Preductal Pulse oximetry /min
IndentIndentIndent73798-1 Perfusion index Blood Preductal Pulse oximetry %
IndentIndentIndent73797-3 Signal quality Blood Preductal Pulse oximetry
IndentIndentIndent73796-5 Infant activity during preductal oxygen saturation measurement
IndentIndentIndent59418-4 Oxygen saturation in Blood Postductal by Pulse oximetry %
IndentIndentIndent73795-7 Heart rate Blood Postductal Pulse oximetry /min
IndentIndentIndent73794-0 Perfusion index Blood Postductal Pulse oximetry %
IndentIndentIndent73793-2 Signal quality Blood Postductal Pulse oximetry
IndentIndentIndent73792-4 Infant activity during postductal oxygen saturation measurement
Indent57794-0 Newborn screening test results panel - Dried blood spot C
IndentIndent53261-4 Amino acid newborn screen panel C
IndentIndentIndent46733-2 Amino acidemias newborn screen interpretation C
IndentIndentIndent57710-6 Amino acidemias newborn screening comment-discussion C
IndentIndentIndent57793-2 Amino acidemia disorder suspected [Identifier] in DBS C
IndentIndentIndent46746-4 Phenylketonuria and variants/Biopterin defects newborn screen interpretation C
IndentIndentIndent58231-2 Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion C
IndentIndentIndent46743-1 Maple syrup urine disease newborn screen interpretation C
IndentIndentIndent58230-4 Maple syrup urine disease newborn screening comment-discussion C
IndentIndentIndent47539-2 3-Methylhistidine [Moles/volume] in DBS C umol/L
IndentIndentIndent53232-5 5-Oxoproline+Pipecolate [Moles/volume] in DBS C umol/L
IndentIndentIndent53394-3 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53150-9 Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS C umol/L
IndentIndentIndent53393-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53152-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS C umol/L
IndentIndentIndent53153-3 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53154-1 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent47562-4 Arginine [Moles/volume] in DBS C umol/L
IndentIndentIndent75214-7 Arginine/Ornithine [Molar ratio] in DBS C {ratio}
IndentIndentIndent53398-4 Arginine/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53062-6 Argininosuccinate [Moles/volume] in DBS C umol/L
IndentIndentIndent53200-2 Argininosuccinate/Arginine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53155-8 Asparagine+Ornithine [Moles/volume] in DBS C umol/L
IndentIndentIndent53395-0 Asparagine+Ornithine/Serine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53396-8 Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent47573-1 Aspartate [Moles/volume] in DBS C umol/L
IndentIndentIndent42892-0 Citrulline [Moles/volume] in DBS C umol/L
IndentIndentIndent54092-2 Citrulline/Arginine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53157-4 Citrulline/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53399-2 Citrulline/Tyrosine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent47623-4 Glutamate [Moles/volume] in DBS C umol/L
IndentIndentIndent47633-3 Glycine [Moles/volume] in DBS C umol/L
IndentIndentIndent93488-5 Guanidinoacetate [Moles/volume] in DBS umol/L
IndentIndentIndent47643-2 Histidine [Moles/volume] in DBS C umol/L
IndentIndentIndent53158-2 Homocitrulline [Moles/volume] in DBS C umol/L
IndentIndentIndent47689-5 Lysine [Moles/volume] in DBS C umol/L
IndentIndentIndent47700-0 Methionine [Moles/volume] in DBS C umol/L
IndentIndentIndent53397-6 Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS C {Ratio}
IndentIndentIndent53156-6 Methionine/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent75215-4 Ornithine/Citrulline [Molar ratio] in DBS C {ratio}
IndentIndentIndent29573-3 Phenylalanine [Moles/volume] in DBS C umol/L
IndentIndentIndent35572-7 Phenylalanine/Tyrosine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent47732-3 Proline [Moles/volume] in DBS C umol/L
IndentIndentIndent53392-7 Proline/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndentIndent47742-2 Serine [Moles/volume] in DBS C umol/L
IndentIndentIndent53231-7 Succinylacetone [Moles/volume] in DBS C umol/L
IndentIndentIndent47784-4 Threonine [Moles/volume] in DBS C umol/L
IndentIndentIndent53159-0 Tryptophan [Moles/volume] in DBS C umol/L
IndentIndentIndent35571-9 Tyrosine [Moles/volume] in DBS C umol/L
IndentIndentIndent47799-2 Valine [Moles/volume] in DBS C umol/L
IndentIndentIndent53151-7 Valine/Phenylalanine [Molar ratio] in DBS C {Ratio}
IndentIndent58092-8 Acylcarnitine newborn screen panel C
IndentIndentIndent58088-6 Acylcarnitine newborn screen interpretation C
IndentIndentIndent58093-6 Acylcarnitine newborn screening comment-discussion C
IndentIndentIndent57084-6 Fatty acid oxidation newborn screen panel C
IndentIndentIndentIndent46736-5 Fatty acid oxidation defects newborn screen interpretation C
IndentIndentIndentIndent57792-4 Fatty acid oxidation conditions suspected [Identifier] in DBS C
IndentIndentIndentIndent57709-8 Fatty acid oxidation defects newborn screening comment-discussion C
IndentIndentIndentIndent38481-8 Carnitine free (C0) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53233-3 Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53234-1 Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53235-8 Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53236-6 Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent75211-3 Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent75212-1 Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS C {ratio}
IndentIndentIndentIndent54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS C {ratio}
IndentIndentIndentIndent50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent50102-3 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent45211-0 Hexanoylcarnitine (C6) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53173-1 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53174-9 Octenoylcarnitine (C8:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53175-6 Octanoylcarnitine (C8) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53176-4 Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53177-2 Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53180-6 Decadienoylcarnitine (C10:2) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent45198-9 Decenoylcarnitine (C10:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent45197-1 Decanoylcarnitine (C10) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53182-2 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent45200-3 Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent45199-7 Dodecanoylcarnitine (C12) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53188-9 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53189-7 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53190-5 Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53191-3 Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53192-1 Tetradecanoylcarnitine (C14) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53193-9 Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53194-7 Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53195-4 Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent70159-9 Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS C {ratio}
IndentIndentIndentIndent53196-2 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53197-0 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent50281-5 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53198-8 Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53199-6 Palmitoylcarnitine (C16) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent50121-3 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent50125-4 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53201-0 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent45217-7 Linoleoylcarnitine (C18:2) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53202-8 Oleoylcarnitine (C18:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53241-6 Stearoylcarnitine (C18) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53400-8 Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent50109-8 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent50113-0 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent50132-0 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53836-3 ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
IndentIndentIndent57085-3 Organic acid newborn screen panel C
IndentIndentIndentIndent46744-9 Organic acidemias newborn screen interpretation C
IndentIndentIndentIndent57791-6 Organic acidemia conditions suspected [Identifier] in DBS C
IndentIndentIndentIndent57708-0 Organic acidemias defects newborn screening comment-discussion C
IndentIndentIndentIndent50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53237-4 Acrylylcarnitine (C3:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53160-8 Propionylcarnitine (C3) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53161-6 Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53162-4 Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53163-2 Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent67708-8 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS C {ratio}
IndentIndentIndentIndent53164-0 Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53170-7 Tiglylcarnitine (C5:1) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent75216-2 Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS {ratio}
IndentIndentIndentIndent67701-3 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent67710-4 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent67711-2 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent45216-9 Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53238-2 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53239-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53240-8 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53401-6 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent50106-4 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53171-5 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53172-3 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent45222-7 Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent67709-6 Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53181-4 Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS C {Ratio}
IndentIndentIndentIndent53187-1 Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS C umol/L
IndentIndentIndentIndent53165-7 Formiminoglutamate [Moles/volume] in DBS C umol/L
IndentIndent54078-1 Cystic fibrosis newborn screening panel C
IndentIndentIndent46769-6 Cystic fibrosis newborn screen interpretation R 1..1
IndentIndentIndent57707-2 Cystic fibrosis newborn screening comment-discussion C
IndentIndentIndent54083-1 CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal C
IndentIndentIndent2077-6 Chloride [Moles/volume] in Sweat C mmol/L
IndentIndentIndent48633-2 Trypsinogen I Free [Mass/volume] in DBS C ug/L
IndentIndent54076-5 Endocrine newborn screening panel C
IndentIndentIndent57086-1 Congenital adrenal hyperplasia newborn screening panel C
IndentIndentIndentIndent46758-9 Congenital adrenal hyperplasia newborn screen interpretation R 1..1
IndentIndentIndentIndent57706-4 Congenital adrenal hyperplasia newborn screening comment-discussion C
IndentIndentIndentIndent53347-1 11-Deoxycorticosterone [Mass/volume] in DBS C ng/dL
IndentIndentIndentIndent53338-0 11-Deoxycortisol [Mass/volume] in DBS C ug/dL
IndentIndentIndentIndent38473-5 17-Hydroxyprogesterone [Mass/volume] in DBS C ng/mL
IndentIndentIndentIndent53336-4 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS C {ratio}
IndentIndentIndentIndent53341-4 21-Deoxycortisol [Mass/volume] in DBS C ug/dL
IndentIndentIndentIndent53343-0 Androstenedione [Mass/volume] in DBS C ng/dL
IndentIndentIndentIndent53345-5 Cortisol [Mass/volume] in DBS C ug/dL
IndentIndentIndent54090-6 Thyroid newborn screening panel C
IndentIndentIndentIndent46762-1 Congenital hypothyroidism newborn screen interpretation R
IndentIndentIndentIndent57705-6 Congenital hypothyroidism newborn screening comment-discussion C
IndentIndentIndentIndent31144-9 Thyroxine (T4) [Mass/volume] in DBS C ug/dL
IndentIndentIndentIndent29575-8 Thyrotropin [Units/volume] in DBS C m[IU]/L
IndentIndent54079-9 Galactosemia newborn screening panel C
IndentIndentIndent46737-3 Galactosemias newborn screen interpretation R 1..1
IndentIndentIndent57704-9 Galactosemias newborn screening comment-discussion C
IndentIndentIndent54084-9 Galactose [Mass/volume] in DBS C mg/dL
IndentIndentIndent33288-2 Galactose 1 phosphate uridyl transferase [Presence] in DBS C
IndentIndentIndent42906-8 Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS C nmol/h/mL
IndentIndentIndent40842-7 Galactose 1 phosphate [Mass/volume] in DBS C mg/dL
IndentIndent54081-5 Hemoglobinopathies newborn screening panel C
IndentIndentIndent64116-7 Hemoglobin observations newborn screening panel
IndentIndentIndentIndent64122-5 Hemoglobins that can be presumptively identified based on available controls in DBS C
IndentIndentIndentIndent64117-5 Most predominant hemoglobin in DBS C
IndentIndentIndentIndent64118-3 Second most predominant hemoglobin in DBS C
IndentIndentIndentIndent64119-1 Third most predominant hemoglobin in DBS C
IndentIndentIndentIndent64120-9 Fourth most predominant hemoglobin in DBS C
IndentIndentIndentIndent64121-7 Fifth most predominant hemoglobin in DBS C
IndentIndentIndent46740-7 Hemoglobin disorders newborn screen interpretation R 1..1
IndentIndentIndent57703-1 Hemoglobin disorders newborn screening comment-discussion C
IndentIndentIndent71592-0 Hemoglobinopathies conditions suspected [Identifier] in DBS C
IndentIndentIndent54072-4 Hemoglobin A/Hemoglobin.total in DBS C %
IndentIndentIndent54069-0 Hemoglobin Barts/Hemoglobin.total in DBS C %
IndentIndentIndent54073-2 Hemoglobin C/Hemoglobin.total in DBS C %
IndentIndentIndent54070-8 Hemoglobin D/Hemoglobin.total in DBS C %
IndentIndentIndent54071-6 Hemoglobin E/Hemoglobin.total in DBS C %
IndentIndentIndent54074-0 Hemoglobin F/Hemoglobin.total in DBS C %
IndentIndentIndent54068-2 Hemoglobin O - Arab/Hemoglobin.total in DBS C %
IndentIndentIndent56476-5 Hemoglobin S/Hemoglobin.total in DBS C %
IndentIndent54082-3 Infectious diseases newborn screening panel C
IndentIndentIndent57702-3 Infectious diseases newborn screen interpretation R 1..1
IndentIndentIndent57701-5 Infectious diseases newborn screening comment-discussion C
IndentIndentIndent54086-4 HIV 1+2 IgG Ab [Presence] in DBS C
IndentIndentIndent54087-2 Toxoplasma gondii IgG Ab [Presence] in DBS C
IndentIndentIndent54088-0 Toxoplasma gondii IgM Ab [Presence] in DBS C
IndentIndent57087-9 Biotinidase newborn screening panel C
IndentIndentIndent46761-3 Biotinidase deficiency newborn screen interpretation R 1..1
IndentIndentIndent57699-1 Biotinidase deficiency newborn screening comment-discussion C
IndentIndentIndent38478-4 Biotinidase [Presence] in DBS C
IndentIndentIndent75217-0 Biotinidase [Enzymatic activity/volume] in DBS C nmol/mL/min
IndentIndent58091-0 Glucose-6-Phosphate dehydrogenase newborn screen panel C
IndentIndentIndent58089-4 Glucose-6-Phosphate dehydrogenase newborn screen interpretation C
IndentIndentIndent58090-2 Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion C
IndentIndentIndent33287-4 Glucose-6-Phosphate dehydrogenase [Presence] in DBS C
IndentIndent62300-9 Lysosomal storage disorders newborn screening panel C
IndentIndentIndent62301-7 Lysosomal storage disorders newborn screen interpretation C 0..1
IndentIndentIndent62303-3 Lysosomal storage disorders newborn screening comment-discussion C 0..1
IndentIndentIndent62302-5 Lysosomal storage disorders suspected [Identifier] in DBS C 0..1
IndentIndentIndent62304-1 Fabry disease newborn screening panel C
IndentIndentIndentIndent62305-8 Fabry disease newborn screen interpretation R 0..1
IndentIndentIndentIndent62306-6 Fabry disease newborn screening comment-discussion C 0..1
IndentIndentIndentIndent55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS C 0..1 umol/L/h
IndentIndentIndent62307-4 Krabbe disease newborn screening panel C
IndentIndentIndentIndent62308-2 Krabbe disease newborn screen interpretation R 0..1
IndentIndentIndentIndent62309-0 Krabbe disease newborn screening comment-discussion C 0..1
IndentIndentIndentIndent62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS C 0..1 umol/L/h
IndentIndentIndent62311-6 Gaucher disease newborn screening panel C
IndentIndentIndentIndent62312-4 Gaucher disease newborn screen interpretation R 0..1
IndentIndentIndentIndent62313-2 Gaucher disease newborn screening comment-discussion C 0..1
IndentIndentIndentIndent55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS C 0..* umol/L/h
IndentIndentIndent79563-3 Mucopolysaccharidosis type I newborn screening panel
IndentIndentIndentIndent55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS umol/h/L
IndentIndentIndentIndent79564-1 Mucopolysaccharidosis type I newborn screen interpretation
IndentIndentIndentIndent79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion
IndentIndentIndent62315-7 Niemann Pick disease A/B newborn screening panel C
IndentIndentIndentIndent62318-1 Niemann Pick disease A/B newborn screen interpretation R 0..1
IndentIndentIndentIndent62319-9 Niemann Pick disease A/B newborn screening comment-discussion C 0..1
IndentIndentIndentIndent62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS C 0..1 umol/L/h
IndentIndentIndent63414-7 Pompe disease newborn screening panel C
IndentIndentIndentIndent63415-4 Pompe disease newborn screen interpretation R 0..*
IndentIndentIndentIndent63416-2 Pompe disease newborn screening comment-discussion C 0..*
IndentIndentIndentIndent55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS C 0..* umol/L/h
IndentIndent62333-0 Severe combined immunodeficiency (SCID) newborn screening panel C
IndentIndentIndent62321-5 Severe combined immunodeficiency newborn screen interpretation R 1..1
IndentIndentIndent62322-3 Severe combined immunodeficiency newborn screening comment-discussion C 0..1
IndentIndentIndent62320-7 T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection C 0..1 {copies}
IndentIndentIndent92006-6 T-cell receptor excision circle [Cycle Threshold #] in DBS {Ct_value}
IndentIndentIndent92007-4 T-cell receptor excision circle [Z-score] in DBS {Zscore}
IndentIndentIndent92008-2 T-cell receptor excision circle [Multiple of the median] in DBS {M.o.M}
IndentIndent92005-8 Spinal muscular atrophy newborn screening panel
IndentIndentIndent92004-1 Spinal muscular atrophy newborn screen interpretation
IndentIndentIndent92003-3 Spinal muscular atrophy newborn screening comment-discussion
IndentIndentIndent92002-5 SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection {Ct_value}
IndentIndentIndent97654-8 SMN2 gene copy number in Blood or Tissue by Molecular genetics method {#}
IndentIndent85267-3 X-linked adrenoleukodystrophy (X-ALD) newborn screening panel C 0..1
IndentIndentIndent85269-9 X-linked adrenoleukodystrophy newborn screen interpretation C 0..*
IndentIndentIndent85268-1 X-linked adrenoleukodystrophy newborn screening comment-discussion C 0..*
IndentIndentIndent79321-6 Lysophosphatidylcholine(26:0) [Moles/volume] in DBS O 0..1 umol/L
IndentIndent57128-1 Newborn Screening Report summary panel C 0..1
IndentIndentIndent57721-3 Reason for lab test in Dried blood spot R 1..1
IndentIndentIndent57718-9 Sample quality of Dried blood spot R 1..1
IndentIndentIndent57130-7 Newborn screening report - overall interpretation C 1..*
IndentIndentIndent57131-5 Newborn conditions with positive markers [Identifier] in DBS R 1..*
IndentIndentIndent57720-5 Newborn conditions with equivocal markers [Identifier] in DBS R 1..*
IndentIndentIndent57724-7 Newborn screening short narrative summary O 0..1
IndentIndentIndent57129-9 Full newborn screening summary report for display or printing O 0..1
IndentIndentIndent57719-7 Conditions tested for in this newborn screening study [Identifier] in DBS R 1..*
IndentIndentIndent69969-4 Newborn screening report overall laboratory comment O 0..*
IndentIndent57717-1 Newborn screen card data panel C
IndentIndentIndent57716-3 State printed on filter paper card [Identifier] in NBS card R
IndentIndentIndent79566-6 Collection method - DBS O
IndentIndentIndent8339-4 Birthweight R [lb_av];kg;g
IndentIndentIndent58229-6 Body weight Measured --when specimen taken O [lb_av];kg
IndentIndentIndent57715-5 Time of birth R {clock_time}
IndentIndentIndent73806-2 Newborn age in hours O h
IndentIndentIndent57722-1 Birth plurality of Pregnancy R
IndentIndentIndent57714-8 Obstetric estimation of gestational age R wk
IndentIndentIndent57713-0 Infant factors that affect newborn screening interpretation R 1..*
IndentIndentIndent67703-9 Other infant factors that affect newborn screening interpretation Narrative C 0..*
IndentIndentIndent67706-2 Maternal factors that affect newborn screening interpretation O 0..*
IndentIndentIndent67707-0 Other maternal factors that affect newborn screening interpretation Narrative C 0..*
IndentIndentIndent77739-1 Mother's Hepatitis B virus surface Ag status C
IndentIndentIndent57712-2 Highest level of education Mother O 0..1
IndentIndentIndent67704-7 Feeding types R 1..*
IndentIndentIndent67705-4 Other feeding types Narrative C 0..*
IndentIndentIndent79569-0 Blood product given [Type] C
IndentIndentIndent62317-3 Date of last blood product transfusion O 0..1
IndentIndentIndent58232-0 Hearing loss risk indicators [Identifier] C 1..*
IndentIndentIndent54106-0 Newborn hearing screen method C
IndentIndentIndent54108-6 Newborn hearing screen of Ear - left C
IndentIndentIndent54109-4 Newborn hearing screen of Ear - right C
IndentIndentIndent73700-7 CCHD newborn screening interpretation C
IndentIndentIndent73698-3 Reason CCHD oxygen saturation screening not performed C
IndentIndentIndent57723-9 Unique bar code number of Current sample R
IndentIndentIndent57711-4 Unique bar code number of Initial sample C
IndentIndentIndent62323-1 Post-discharge provider ID [Identifier] C 0..1
IndentIndentIndent62324-9 Post-discharge provider name in Provider C 0..1
IndentIndentIndent62325-6 Post-discharge provider practice ID C 0..1
IndentIndentIndent62326-4 Post-discharge provider practice name C 0..1
IndentIndentIndent62327-2 Post-discharge provider practice address C 0..1
IndentIndentIndent62328-0 Post-discharge provider practice phone number C 0..1
IndentIndentIndent62329-8 Birth hospital facility ID C 0..1
IndentIndentIndent62330-6 Birth hospital facility name C 0..1
IndentIndentIndent62331-4 Birth hospital facility address C 0..1
IndentIndentIndent62332-2 Birth hospital facility phone number C 0..1

Fully-Specified Name

Component
Newborn screening panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method
AHIC

Additional Names

Short Name
NB Screen Pnl Patient AHIC
Display Name
NBS panel AHIC
Consumer Name Alpha Get Info
NBS panel

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.77
Order vs. Observation
Order
Common Test Rank Get Info
1192
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8 Mucopolysaccharidosis type II newborn screening panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de screening del recien nacido:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:AHIC
es-MX Spanish (Mexico) Panel de detección de recién nacidos:-:Punto temporal:^ Paciente:-:Comunidad Estadounidense de Información sobre la Salud (AHIC)
fr-CA French (Canada) Dépistage néonatal:-:Temps ponctuel:^Patient:-:AHIC
fr-BE French (Belgium) Dépistage néonatal:-:Temps ponctuel:^Patient:-:AHIC
it-IT Italian (Italy) Screening neonatale, panel:-:Pt:^Paziente:-:AHIC
Synonyms: American Health Information Community (AHIC) Chimica Panel screening neonatale paziente Punto nel tempo (episodio) Set di prescrizione chimica
nl-NL Dutch (Netherlands) pasgeborene screening panel:-:moment:^patiënt:-:AHIC
Synonyms: American Health Information Community
pt-BR Portuguese (Brazil) Recém nascido triagem painel:-:Pt:^Paciente:-:American Health Information Community (AHIC)
Synonyms: ; NB Screen Pnl; NBS; Point in time; Random; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
zh-CN Chinese (China) 新生儿筛查组套:-:时间点:^患者:-:AHIC
Synonyms: Asympt SCN 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 新生儿(NB)筛查(筛选、过筛、筛检)组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状(Asymptomatic,Asympt) 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 筛分 筛分试验 筛查(Screening,SCN) 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 美国健康信息社区;美国卫生信息社区;American Health Information Community;AHIC

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=54089-8
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/54089-8