54089-8
Newborn screening panel American Health Information Community (AHIC)
Active
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.
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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) | |||
| Indent88535-0 | Cytomegalovirus DNA [Presence] in DBS by NAA with probe detection | |||
| Indent73738-7 | Newborn screening test results panel - Point of Care | |||
| Indent Indent54111-0 | Newborn hearing screening panel | |||
| Indent Indent Indent57700-7 | Hearing loss newborn screening comment/discussion | |||
| Indent Indent Indent58232-0 | Hearing loss risk indicators [Identifier] | |||
| Indent Indent Indent54106-0 | Newborn hearing screen method | |||
| Indent Indent Indent73741-1 | Newborn hearing screen panel - Left Ear | |||
| Indent Indent Indent Indent54108-6 | Newborn hearing screen of Ear - left | |||
| Indent Indent Indent Indent73740-3 | Screening duration of Ear - left | min | ||
| Indent Indent Indent Indent73739-5 | Newborn hearing screen reason not performed of Ear - left | |||
| Indent Indent Indent73744-5 | Newborn hearing screen panel - Right Ear | C | ||
| Indent Indent Indent Indent54109-4 | Newborn hearing screen of Ear - right | R | 1..1 | |
| Indent Indent Indent Indent73743-7 | Screening duration of Ear - right | C | 0..1 | min |
| Indent Indent Indent Indent73742-9 | Newborn hearing screen reason not performed of Ear - right | C | 0..* | |
| Indent Indent73805-4 | CCHD newborn screening panel | |||
| Indent Indent Indent73700-7 | CCHD newborn screening interpretation | |||
| Indent Indent Indent73696-7 | Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductal | % | ||
| Indent Indent Indent73806-2 | Newborn age in hours | h | ||
| Indent Indent Indent73699-1 | Number of prior CCHD screens [#] Qualitative | |||
| Indent Indent Indent73804-7 | Oxygen saturation sensor name | |||
| Indent Indent Indent73803-9 | Oxygen saturation sensor type | |||
| Indent Indent Indent73802-1 | Oxygen saturation sensor wrap name | |||
| Indent Indent Indent73801-3 | Oxygen saturation sensor wrap type | |||
| Indent Indent Indent73800-5 | Oxygen saturation sensor wrap size | |||
| Indent Indent Indent73697-5 | CCHD newborn screening protocol used [Type] | |||
| Indent Indent Indent73698-3 | Reason CCHD oxygen saturation screening not performed | |||
| Indent Indent Indent59407-7 | Oxygen saturation in Blood Preductal by Pulse oximetry | % | ||
| Indent Indent Indent73799-9 | Heart rate Blood Preductal Pulse oximetry | /min | ||
| Indent Indent Indent73798-1 | Perfusion index Blood Preductal Pulse oximetry | % | ||
| Indent Indent Indent73797-3 | Signal quality Blood Preductal Pulse oximetry | |||
| Indent Indent Indent73796-5 | Infant activity during preductal oxygen saturation measurement | |||
| Indent Indent Indent59418-4 | Oxygen saturation in Blood Postductal by Pulse oximetry | % | ||
| Indent Indent Indent73795-7 | Heart rate Blood Postductal Pulse oximetry | /min | ||
| Indent Indent Indent73794-0 | Perfusion index Blood Postductal Pulse oximetry | % | ||
| Indent Indent Indent73793-2 | Signal quality Blood Postductal Pulse oximetry | |||
| Indent Indent Indent73792-4 | Infant activity during postductal oxygen saturation measurement | |||
| Indent Indent58092-8 | Acylcarnitine newborn screen panel | C | ||
| Indent Indent Indent58088-6 | Acylcarnitine newborn screen interpretation | C | ||
| Indent Indent Indent58093-6 | Acylcarnitine newborn screening comment-discussion | C | ||
| Indent Indent Indent57084-6 | Fatty acid oxidation newborn screen panel | C | ||
| Indent Indent Indent Indent46736-5 | Fatty acid oxidation defects newborn screen interpretation | C | ||
| Indent Indent Indent Indent57792-4 | Fatty acid oxidation conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent57709-8 | Fatty acid oxidation defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent38481-8 | Carnitine free (C0) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53233-3 | Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53234-1 | Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53235-8 | Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53236-6 | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent75211-3 | Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75212-1 | Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50102-3 | 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45211-0 | Hexanoylcarnitine (C6) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53173-1 | 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53174-9 | Octenoylcarnitine (C8:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53175-6 | Octanoylcarnitine (C8) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53176-4 | Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53177-2 | Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53180-6 | Decadienoylcarnitine (C10:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45198-9 | Decenoylcarnitine (C10:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45197-1 | Decanoylcarnitine (C10) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53182-2 | 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45200-3 | Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45199-7 | Dodecanoylcarnitine (C12) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53188-9 | 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53189-7 | 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53190-5 | Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53191-3 | Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53192-1 | Tetradecanoylcarnitine (C14) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53193-9 | Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53194-7 | Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53195-4 | Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent70159-9 | Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53196-2 | 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53197-0 | 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50281-5 | 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53198-8 | Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53199-6 | Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50121-3 | 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50125-4 | 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53201-0 | 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45217-7 | Linoleoylcarnitine (C18:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53202-8 | Oleoylcarnitine (C18:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53241-6 | Stearoylcarnitine (C18) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53400-8 | Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50109-8 | 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50113-0 | 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50132-0 | 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53836-3 | ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |||
| Indent Indent Indent57085-3 | Organic acid newborn screen panel | C | ||
| Indent Indent Indent Indent46744-9 | Organic acidemias newborn screen interpretation | C | ||
| Indent Indent Indent Indent57791-6 | Organic acidemia conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent57708-0 | Organic acidemias defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53237-4 | Acrylylcarnitine (C3:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53160-8 | Propionylcarnitine (C3) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53161-6 | Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53162-4 | Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53163-2 | Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67708-8 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53164-0 | Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53170-7 | Tiglylcarnitine (C5:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75216-2 | Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS | {ratio} | ||
| Indent Indent Indent Indent67701-3 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent67710-4 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67711-2 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45216-9 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53238-2 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53239-0 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53240-8 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53401-6 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50106-4 | 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53171-5 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53172-3 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45222-7 | Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67709-6 | Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53181-4 | Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53187-1 | Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53165-7 | Formiminoglutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent54078-1 | Cystic fibrosis newborn screening panel | C | ||
| Indent Indent Indent46769-6 | Cystic fibrosis newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57707-2 | Cystic fibrosis newborn screening comment-discussion | C | ||
| Indent Indent Indent54083-1 | CFTR gene mutations found [Identifier] in DBS by Targeted gene mutation analysis Nominal | C | ||
| Indent Indent Indent2077-6 | Chloride [Moles/volume] in Sweat | C | mmol/L | |
| Indent Indent Indent48633-2 | Trypsinogen I Free [Mass/volume] in DBS | C | ug/L | |
| Indent Indent54076-5 | Endocrine newborn screening panel | C | ||
| Indent Indent Indent57086-1 | Congenital adrenal hyperplasia newborn screening panel | C | ||
| Indent Indent Indent Indent46758-9 | Congenital adrenal hyperplasia newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57706-4 | Congenital adrenal hyperplasia newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent53347-1 | 11-Deoxycorticosterone [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent53338-0 | 11-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent38473-5 | 17-Hydroxyprogesterone [Mass/volume] in DBS | C | ng/mL | |
| Indent Indent Indent Indent53336-4 | 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53341-4 | 21-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent53343-0 | Androstenedione [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent53345-5 | Cortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent54090-6 | Thyroid newborn screening panel | C | ||
| Indent Indent Indent Indent46762-1 | Congenital hypothyroidism newborn screen interpretation | R | ||
| Indent Indent Indent Indent57705-6 | Congenital hypothyroidism newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent31144-9 | Thyroxine (T4) [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent29575-8 | Thyrotropin [Units/volume] in DBS | C | m[IU]/L | |
| Indent Indent54079-9 | Galactosemia newborn screening panel | C | ||
| Indent Indent Indent46737-3 | Galactosemias newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57704-9 | Galactosemias newborn screening comment-discussion | C | ||
| Indent Indent Indent54084-9 | Galactose [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent Indent33288-2 | Galactose 1 phosphate uridyl transferase [Presence] in DBS | C | ||
| Indent Indent Indent42906-8 | Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS | C | nmol/h/mL | |
| Indent Indent Indent40842-7 | Galactose 1 phosphate [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent54081-5 | Hemoglobinopathies newborn screening panel | C | ||
| Indent Indent Indent64116-7 | Hemoglobin observations newborn screening panel | |||
| Indent Indent Indent Indent64122-5 | Hemoglobins that can be presumptively identified based on available controls in DBS | C | ||
| Indent Indent Indent Indent64117-5 | Most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64118-3 | Second most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64119-1 | Third most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64120-9 | Fourth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64121-7 | Fifth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent46740-7 | Hemoglobin disorders newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57703-1 | Hemoglobin disorders newborn screening comment-discussion | C | ||
| Indent Indent Indent71592-0 | Hemoglobinopathies conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent54072-4 | Hemoglobin A/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54069-0 | Hemoglobin Barts/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54073-2 | Hemoglobin C/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54070-8 | Hemoglobin D/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54071-6 | Hemoglobin E/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54074-0 | Hemoglobin F/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54068-2 | Hemoglobin O - Arab/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent56476-5 | Hemoglobin S/Hemoglobin.total in DBS | C | % | |
| Indent Indent54082-3 | Infectious diseases newborn screening panel | C | ||
| Indent Indent Indent57702-3 | Infectious diseases newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57701-5 | Infectious diseases newborn screening comment-discussion | C | ||
| Indent Indent Indent54086-4 | HIV 1+2 IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent54087-2 | Toxoplasma gondii IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent54088-0 | Toxoplasma gondii IgM Ab [Presence] in DBS | C | ||
| Indent Indent Indent88535-0 | Cytomegalovirus DNA [Presence] in DBS by NAA with probe detection | |||
| Indent Indent57087-9 | Biotinidase newborn screening panel | C | ||
| Indent Indent Indent46761-3 | Biotinidase deficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57699-1 | Biotinidase deficiency newborn screening comment-discussion | C | ||
| Indent Indent Indent38478-4 | Biotinidase [Presence] in DBS | C | ||
| Indent Indent Indent75217-0 | Biotinidase [Enzymatic activity/volume] in DBS | C | nmol/mL/min | |
| Indent Indent58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel | C | ||
| Indent Indent Indent58089-4 | Glucose-6-Phosphate dehydrogenase newborn screen interpretation | C | ||
| Indent Indent Indent58090-2 | Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion | C | ||
| Indent Indent Indent33287-4 | Glucose-6-Phosphate dehydrogenase [Presence] in DBS | C | ||
| Indent Indent62300-9 | Lysosomal disorders newborn screening panel | C | ||
| Indent Indent Indent62301-7 | Lysosomal disorders newborn screen interpretation | C | 0..1 | |
| Indent Indent Indent62303-3 | Lysosomal disorders newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent62302-5 | Lysosomal disorders suspected [Identifier] in DBS | C | 0..1 | |
| Indent Indent Indent62304-1 | Fabry disease newborn screening panel | C | ||
| Indent Indent Indent Indent62305-8 | Fabry disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62306-6 | Fabry disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent55908-8 | Alpha galactosidase A [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent62307-4 | Krabbe disease newborn screening panel | C | ||
| Indent Indent Indent Indent62308-2 | Krabbe disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62309-0 | Krabbe disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62310-8 | Galactosylceramidase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent62311-6 | Gaucher disease newborn screening panel | C | ||
| Indent Indent Indent Indent62312-4 | Gaucher disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62313-2 | Gaucher disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent55917-9 | Glucosylceramidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent79563-3 | Mucopolysaccharidosis type I newborn screening panel | |||
| Indent Indent Indent Indent55909-6 | Alpha-L-iduronidase [Enzymatic activity/volume] in DBS | umol/h/L | ||
| Indent Indent Indent Indent79564-1 | Mucopolysaccharidosis type I newborn screen interpretation | |||
| Indent Indent Indent Indent79565-8 | Mucopolysaccharidosis type I newborn screening comment-discussion | |||
| Indent Indent Indent104188-8 | Mucopolysaccharidosis type II newborn screening panel | |||
| Indent Indent Indent Indent79462-8 | Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS | nmol/h/mL | ||
| Indent Indent Indent Indent104190-4 | Mucopolysaccharidosis type II comment [Text] in DBS Narrative | |||
| Indent Indent Indent Indent104189-6 | Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation | |||
| Indent Indent Indent62315-7 | Niemann Pick disease A/B newborn screening panel | C | ||
| Indent Indent Indent Indent62318-1 | Niemann Pick disease A/B newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62319-9 | Niemann Pick disease A/B newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62316-5 | Acid sphingomyelinase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent63414-7 | Pompe disease newborn screening panel | C | ||
| Indent Indent Indent Indent63415-4 | Pompe disease newborn screen interpretation | R | 0..* | |
| Indent Indent Indent Indent63416-2 | Pompe disease newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent Indent55827-0 | Acid alpha glucosidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent111825-6 | Metachromatic Leukodystrophy newborn screening panel | |||
| Indent Indent Indent Indent111823-1 | Metachromatic leukodystrophy comment [Text] in DBS Narrative | |||
| Indent Indent Indent Indent111822-3 | Metachromatic leukodystrophy comment newborn screen interpretation | |||
| Indent Indent Indent Indent111824-9 | Cerebroside sulfatase [Enzymatic activity/volume] in DBS | U/L | ||
| Indent Indent Indent Indent112305-8 | C16:0 sulfatide [Mass/volume] in DBS | ng/mL | ||
| Indent Indent Indent Indent112304-1 | C16:1-OH sulfatide [Mass/volume] in DBS | ng/mL | ||
| Indent Indent62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel | C | ||
| Indent Indent Indent62321-5 | Severe combined immunodeficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent62322-3 | Severe combined immunodeficiency newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent62320-7 | T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection | C | 0..1 | {copies} |
| Indent Indent Indent92006-6 | T-cell receptor excision circle [Cycle Threshold #] in DBS | {Ct_value} | ||
| Indent Indent Indent92007-4 | T-cell receptor excision circle [Z-score] in DBS | {Zscore} | ||
| Indent Indent Indent92008-2 | T-cell receptor excision circle [Multiple of the median] in DBS | {M.o.M} | ||
| Indent Indent92005-8 | Spinal muscular atrophy newborn screening panel | |||
| Indent Indent Indent92004-1 | Spinal muscular atrophy newborn screen interpretation | |||
| Indent Indent Indent92003-3 | Spinal muscular atrophy newborn screening comment-discussion | |||
| Indent Indent Indent92002-5 | SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection | {Ct_value} | ||
| Indent Indent Indent97654-8 | SMN2 gene copy number in Blood or Tissue by Molecular genetics method | {#} | ||
| Indent Indent85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel | C | 0..1 | |
| Indent Indent Indent85269-9 | X-linked adrenoleukodystrophy newborn screen interpretation | C | 0..* | |
| Indent Indent Indent85268-1 | X-linked adrenoleukodystrophy newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent79321-6 | Lysophosphatidylcholine(26:0) [Moles/volume] in DBS | O | 0..1 | umol/L |
| Indent Indent57717-1 | Newborn screen card data panel | C | ||
| Indent Indent Indent57716-3 | State printed on filter paper card [Identifier] in NBS card | R | ||
| Indent Indent Indent79566-6 | Collection method - DBS | O | ||
| Indent Indent Indent8339-4 | Birthweight | R | [lb_av];kg;g | |
| Indent Indent Indent58229-6 | Body weight Measured --when specimen taken | O | [lb_av];kg | |
| Indent Indent Indent57715-5 | Time of birth | R | {clock_time} | |
| Indent Indent Indent73806-2 | Newborn age in hours | O | h | |
| Indent Indent Indent57722-1 | Birth plurality of Pregnancy | R | ||
| Indent Indent Indent57714-8 | Obstetric estimation of gestational age | R | wk | |
| Indent Indent Indent57713-0 | Infant factors that affect newborn screening interpretation | R | 1..* | |
| Indent Indent Indent67703-9 | Other infant factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent67706-2 | Maternal factors that affect newborn screening interpretation | O | 0..* | |
| Indent Indent Indent67707-0 | Other maternal factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent77739-1 | Mother's Hepatitis B virus surface Ag status | C | ||
| Indent Indent Indent57712-2 | Highest level of education Mother | O | 0..1 | |
| Indent Indent Indent67704-7 | Feeding types | R | 1..* | |
| Indent Indent Indent67705-4 | Other feeding types Narrative | C | 0..* | |
| Indent Indent Indent79569-0 | Blood product given [Type] | C | ||
| Indent Indent Indent62317-3 | Date of last blood product transfusion | O | 0..1 | |
| Indent Indent Indent58232-0 | Hearing loss risk indicators [Identifier] | C | 1..* | |
| Indent Indent Indent54106-0 | Newborn hearing screen method | C | ||
| Indent Indent Indent54108-6 | Newborn hearing screen of Ear - left | C | ||
| Indent Indent Indent54109-4 | Newborn hearing screen of Ear - right | C | ||
| Indent Indent Indent73700-7 | CCHD newborn screening interpretation | C | ||
| Indent Indent Indent73698-3 | Reason CCHD oxygen saturation screening not performed | C | ||
| Indent Indent Indent57723-9 | Unique bar code number of Current sample | R | ||
| Indent Indent Indent57711-4 | Unique bar code number of Initial sample | C | ||
| Indent Indent Indent62323-1 | Post-discharge provider ID [Identifier] | C | 0..1 | |
| Indent Indent Indent62324-9 | Post-discharge provider name in Provider | C | 0..1 | |
| Indent Indent Indent62325-6 | Post-discharge provider practice ID | C | 0..1 | |
| Indent Indent Indent62326-4 | Post-discharge provider practice name | C | 0..1 | |
| Indent Indent Indent62327-2 | Post-discharge provider practice address | C | 0..1 | |
| Indent Indent Indent62328-0 | Post-discharge provider practice phone number | C | 0..1 | |
| Indent Indent Indent62329-8 | Birth hospital facility ID | C | 0..1 | |
| Indent Indent Indent62330-6 | Birth hospital facility name | C | 0..1 | |
| Indent Indent Indent62331-4 | Birth hospital facility address | C | 0..1 | |
| Indent Indent Indent62332-2 | Birth hospital facility phone number | C | 0..1 | |
| Indent57794-0 | Newborn screening test results panel - Dried blood spot | C | ||
| Indent Indent53261-4 | Amino acid newborn screen panel | C | ||
| Indent Indent Indent46733-2 | Amino acidemias newborn screen interpretation | C | ||
| Indent Indent Indent57710-6 | Amino acidemias newborn screening comment-discussion | C | ||
| Indent Indent Indent57793-2 | Amino acidemia disorder suspected [Identifier] in DBS | C | ||
| Indent Indent Indent46746-4 | Phenylketonuria and variants/Biopterin defects newborn screen interpretation | C | ||
| Indent Indent Indent58231-2 | Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion | C | ||
| Indent Indent Indent46743-1 | Maple syrup urine disease newborn screen interpretation | C | ||
| Indent Indent Indent58230-4 | Maple syrup urine disease newborn screening comment-discussion | C | ||
| Indent Indent Indent47539-2 | 3-Methylhistidine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53232-5 | 5-Oxoproline+Pipecolate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53394-3 | 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53150-9 | Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53393-5 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53152-5 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53153-3 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53154-1 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47562-4 | Arginine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent75214-7 | Arginine/Ornithine [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent53398-4 | Arginine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53062-6 | Argininosuccinate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53200-2 | Argininosuccinate/Arginine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53155-8 | Asparagine+Ornithine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53395-0 | Asparagine+Ornithine/Serine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53396-8 | Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47573-1 | Aspartate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent42892-0 | Citrulline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent54092-2 | Citrulline/Arginine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53157-4 | Citrulline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53399-2 | Citrulline/Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47623-4 | Glutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47633-3 | Glycine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent93488-5 | Guanidinoacetate [Moles/volume] in DBS | umol/L | ||
| Indent Indent Indent47643-2 | Histidine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53158-2 | Homocitrulline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47689-5 | Lysine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47700-0 | Methionine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53397-6 | Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53156-6 | Methionine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent75215-4 | Ornithine/Citrulline [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent29573-3 | Phenylalanine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent35572-7 | Phenylalanine/Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47732-3 | Proline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53392-7 | Proline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47742-2 | Serine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53231-7 | Succinylacetone [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47784-4 | Threonine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53159-0 | Tryptophan [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent35571-9 | Tyrosine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47799-2 | Valine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53151-7 | Valine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel | |||
| Indent Indent Indent104192-0 | Guanidinoacetate methyltransferase deficiency newborn screen interpretation | |||
| Indent Indent Indent104194-6 | Creatine [Moles/volume] in DBS | mmol/L | ||
| Indent Indent Indent104193-8 | Guanidinoacetate methyltransferase deficiency comment [Text] in DBS Narrative | |||
| Indent Indent Indent93488-5 | Guanidinoacetate [Moles/volume] in DBS | umol/L | ||
| Indent Indent Indent107506-8 | Guanidinoacetate/Creatine [Molar ratio] in DBS | umol/mmol | ||
| Indent Indent58092-8 | Acylcarnitine newborn screen panel | C | ||
| Indent Indent Indent58088-6 | Acylcarnitine newborn screen interpretation | C | ||
| Indent Indent Indent58093-6 | Acylcarnitine newborn screening comment-discussion | C | ||
| Indent Indent Indent57084-6 | Fatty acid oxidation newborn screen panel | C | ||
| Indent Indent Indent Indent46736-5 | Fatty acid oxidation defects newborn screen interpretation | C | ||
| Indent Indent Indent Indent57792-4 | Fatty acid oxidation conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent57709-8 | Fatty acid oxidation defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent38481-8 | Carnitine free (C0) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53233-3 | Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53234-1 | Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53235-8 | Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53236-6 | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent75211-3 | Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75212-1 | Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50102-3 | 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45211-0 | Hexanoylcarnitine (C6) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53173-1 | 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53174-9 | Octenoylcarnitine (C8:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53175-6 | Octanoylcarnitine (C8) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53176-4 | Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53177-2 | Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53180-6 | Decadienoylcarnitine (C10:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45198-9 | Decenoylcarnitine (C10:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45197-1 | Decanoylcarnitine (C10) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53182-2 | 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45200-3 | Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45199-7 | Dodecanoylcarnitine (C12) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53188-9 | 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53189-7 | 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53190-5 | Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53191-3 | Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53192-1 | Tetradecanoylcarnitine (C14) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53193-9 | Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53194-7 | Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53195-4 | Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent70159-9 | Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53196-2 | 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53197-0 | 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50281-5 | 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53198-8 | Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53199-6 | Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50121-3 | 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50125-4 | 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53201-0 | 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45217-7 | Linoleoylcarnitine (C18:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53202-8 | Oleoylcarnitine (C18:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53241-6 | Stearoylcarnitine (C18) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53400-8 | Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50109-8 | 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50113-0 | 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50132-0 | 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53836-3 | ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |||
| Indent Indent Indent57085-3 | Organic acid newborn screen panel | C | ||
| Indent Indent Indent Indent46744-9 | Organic acidemias newborn screen interpretation | C | ||
| Indent Indent Indent Indent57791-6 | Organic acidemia conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent57708-0 | Organic acidemias defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53237-4 | Acrylylcarnitine (C3:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53160-8 | Propionylcarnitine (C3) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53161-6 | Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53162-4 | Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53163-2 | Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67708-8 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53164-0 | Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53170-7 | Tiglylcarnitine (C5:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75216-2 | Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS | {ratio} | ||
| Indent Indent Indent Indent67701-3 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent67710-4 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67711-2 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45216-9 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53238-2 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53239-0 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53240-8 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53401-6 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50106-4 | 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53171-5 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53172-3 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45222-7 | Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67709-6 | Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53181-4 | Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53187-1 | Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53165-7 | Formiminoglutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent54078-1 | Cystic fibrosis newborn screening panel | C | ||
| Indent Indent Indent46769-6 | Cystic fibrosis newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57707-2 | Cystic fibrosis newborn screening comment-discussion | C | ||
| Indent Indent Indent54083-1 | CFTR gene mutations found [Identifier] in DBS by Targeted gene mutation analysis Nominal | C | ||
| Indent Indent Indent2077-6 | Chloride [Moles/volume] in Sweat | C | mmol/L | |
| Indent Indent Indent48633-2 | Trypsinogen I Free [Mass/volume] in DBS | C | ug/L | |
| Indent Indent54076-5 | Endocrine newborn screening panel | C | ||
| Indent Indent Indent57086-1 | Congenital adrenal hyperplasia newborn screening panel | C | ||
| Indent Indent Indent Indent46758-9 | Congenital adrenal hyperplasia newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57706-4 | Congenital adrenal hyperplasia newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent53347-1 | 11-Deoxycorticosterone [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent53338-0 | 11-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent38473-5 | 17-Hydroxyprogesterone [Mass/volume] in DBS | C | ng/mL | |
| Indent Indent Indent Indent53336-4 | 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53341-4 | 21-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent53343-0 | Androstenedione [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent53345-5 | Cortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent54090-6 | Thyroid newborn screening panel | C | ||
| Indent Indent Indent Indent46762-1 | Congenital hypothyroidism newborn screen interpretation | R | ||
| Indent Indent Indent Indent57705-6 | Congenital hypothyroidism newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent31144-9 | Thyroxine (T4) [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent29575-8 | Thyrotropin [Units/volume] in DBS | C | m[IU]/L | |
| Indent Indent54079-9 | Galactosemia newborn screening panel | C | ||
| Indent Indent Indent46737-3 | Galactosemias newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57704-9 | Galactosemias newborn screening comment-discussion | C | ||
| Indent Indent Indent54084-9 | Galactose [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent Indent33288-2 | Galactose 1 phosphate uridyl transferase [Presence] in DBS | C | ||
| Indent Indent Indent42906-8 | Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS | C | nmol/h/mL | |
| Indent Indent Indent40842-7 | Galactose 1 phosphate [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent54081-5 | Hemoglobinopathies newborn screening panel | C | ||
| Indent Indent Indent64116-7 | Hemoglobin observations newborn screening panel | |||
| Indent Indent Indent Indent64122-5 | Hemoglobins that can be presumptively identified based on available controls in DBS | C | ||
| Indent Indent Indent Indent64117-5 | Most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64118-3 | Second most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64119-1 | Third most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64120-9 | Fourth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64121-7 | Fifth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent46740-7 | Hemoglobin disorders newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57703-1 | Hemoglobin disorders newborn screening comment-discussion | C | ||
| Indent Indent Indent71592-0 | Hemoglobinopathies conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent54072-4 | Hemoglobin A/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54069-0 | Hemoglobin Barts/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54073-2 | Hemoglobin C/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54070-8 | Hemoglobin D/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54071-6 | Hemoglobin E/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54074-0 | Hemoglobin F/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54068-2 | Hemoglobin O - Arab/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent56476-5 | Hemoglobin S/Hemoglobin.total in DBS | C | % | |
| Indent Indent54082-3 | Infectious diseases newborn screening panel | C | ||
| Indent Indent Indent57702-3 | Infectious diseases newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57701-5 | Infectious diseases newborn screening comment-discussion | C | ||
| Indent Indent Indent54086-4 | HIV 1+2 IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent54087-2 | Toxoplasma gondii IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent54088-0 | Toxoplasma gondii IgM Ab [Presence] in DBS | C | ||
| Indent Indent57087-9 | Biotinidase newborn screening panel | C | ||
| Indent Indent Indent46761-3 | Biotinidase deficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57699-1 | Biotinidase deficiency newborn screening comment-discussion | C | ||
| Indent Indent Indent38478-4 | Biotinidase [Presence] in DBS | C | ||
| Indent Indent Indent75217-0 | Biotinidase [Enzymatic activity/volume] in DBS | C | nmol/mL/min | |
| Indent Indent58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel | C | ||
| Indent Indent Indent58089-4 | Glucose-6-Phosphate dehydrogenase newborn screen interpretation | C | ||
| Indent Indent Indent58090-2 | Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion | C | ||
| Indent Indent Indent33287-4 | Glucose-6-Phosphate dehydrogenase [Presence] in DBS | C | ||
| Indent Indent62300-9 | Lysosomal disorders newborn screening panel | C | ||
| Indent Indent Indent104188-8 | Mucopolysaccharidosis type II newborn screening panel | |||
| Indent Indent Indent Indent79462-8 | Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS | nmol/h/mL | ||
| Indent Indent Indent Indent104190-4 | Mucopolysaccharidosis type II comment [Text] in DBS Narrative | |||
| Indent Indent Indent Indent104189-6 | Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation | |||
| Indent Indent Indent62301-7 | Lysosomal disorders newborn screen interpretation | C | 0..1 | |
| Indent Indent Indent62303-3 | Lysosomal disorders newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent62302-5 | Lysosomal disorders suspected [Identifier] in DBS | C | 0..1 | |
| Indent Indent Indent62304-1 | Fabry disease newborn screening panel | C | ||
| Indent Indent Indent Indent62305-8 | Fabry disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62306-6 | Fabry disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent55908-8 | Alpha galactosidase A [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent62307-4 | Krabbe disease newborn screening panel | C | ||
| Indent Indent Indent Indent62308-2 | Krabbe disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62309-0 | Krabbe disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62310-8 | Galactosylceramidase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent62311-6 | Gaucher disease newborn screening panel | C | ||
| Indent Indent Indent Indent62312-4 | Gaucher disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62313-2 | Gaucher disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent55917-9 | Glucosylceramidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent79563-3 | Mucopolysaccharidosis type I newborn screening panel | |||
| Indent Indent Indent Indent55909-6 | Alpha-L-iduronidase [Enzymatic activity/volume] in DBS | umol/h/L | ||
| Indent Indent Indent Indent79564-1 | Mucopolysaccharidosis type I newborn screen interpretation | |||
| Indent Indent Indent Indent79565-8 | Mucopolysaccharidosis type I newborn screening comment-discussion | |||
| Indent Indent Indent62315-7 | Niemann Pick disease A/B newborn screening panel | C | ||
| Indent Indent Indent Indent62318-1 | Niemann Pick disease A/B newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62319-9 | Niemann Pick disease A/B newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62316-5 | Acid sphingomyelinase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent63414-7 | Pompe disease newborn screening panel | C | ||
| Indent Indent Indent Indent63415-4 | Pompe disease newborn screen interpretation | R | 0..* | |
| Indent Indent Indent Indent63416-2 | Pompe disease newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent Indent55827-0 | Acid alpha glucosidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent111822-3 | Metachromatic leukodystrophy comment newborn screen interpretation | |||
| Indent Indent62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel | C | ||
| Indent Indent Indent62321-5 | Severe combined immunodeficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent62322-3 | Severe combined immunodeficiency newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent62320-7 | T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection | C | 0..1 | {copies} |
| Indent Indent Indent92006-6 | T-cell receptor excision circle [Cycle Threshold #] in DBS | {Ct_value} | ||
| Indent Indent Indent92007-4 | T-cell receptor excision circle [Z-score] in DBS | {Zscore} | ||
| Indent Indent Indent92008-2 | T-cell receptor excision circle [Multiple of the median] in DBS | {M.o.M} | ||
| Indent Indent92005-8 | Spinal muscular atrophy newborn screening panel | |||
| Indent Indent Indent92004-1 | Spinal muscular atrophy newborn screen interpretation | |||
| Indent Indent Indent92003-3 | Spinal muscular atrophy newborn screening comment-discussion | |||
| Indent Indent Indent92002-5 | SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection | {Ct_value} | ||
| Indent Indent Indent97654-8 | SMN2 gene copy number in Blood or Tissue by Molecular genetics method | {#} | ||
| Indent Indent85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel | C | 0..1 | |
| Indent Indent Indent85269-9 | X-linked adrenoleukodystrophy newborn screen interpretation | C | 0..* | |
| Indent Indent Indent85268-1 | X-linked adrenoleukodystrophy newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent79321-6 | Lysophosphatidylcholine(26:0) [Moles/volume] in DBS | O | 0..1 | umol/L |
| Indent Indent57128-1 | Newborn Screening Report summary panel | C | 0..1 | |
| Indent Indent Indent57721-3 | Reason for lab test in Dried blood spot | R | 1..1 | |
| Indent Indent Indent57718-9 | Sample quality of Dried blood spot | R | 1..1 | |
| Indent Indent Indent57130-7 | Newborn screening report - overall interpretation | C | 1..* | |
| Indent Indent Indent57131-5 | Newborn conditions with positive markers [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent57720-5 | Newborn conditions with equivocal markers [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent57724-7 | Newborn screening short narrative summary | O | 0..1 | |
| Indent Indent Indent57129-9 | Full newborn screening summary report for display or printing | O | 0..1 | |
| Indent Indent Indent57719-7 | Conditions tested for in this newborn screening study [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent69969-4 | Newborn screening report overall laboratory comment | O | 0..* | |
| Indent Indent57717-1 | Newborn screen card data panel | C | ||
| Indent Indent Indent57716-3 | State printed on filter paper card [Identifier] in NBS card | R | ||
| Indent Indent Indent79566-6 | Collection method - DBS | O | ||
| Indent Indent Indent8339-4 | Birthweight | R | [lb_av];kg;g | |
| Indent Indent Indent58229-6 | Body weight Measured --when specimen taken | O | [lb_av];kg | |
| Indent Indent Indent57715-5 | Time of birth | R | {clock_time} | |
| Indent Indent Indent73806-2 | Newborn age in hours | O | h | |
| Indent Indent Indent57722-1 | Birth plurality of Pregnancy | R | ||
| Indent Indent Indent57714-8 | Obstetric estimation of gestational age | R | wk | |
| Indent Indent Indent57713-0 | Infant factors that affect newborn screening interpretation | R | 1..* | |
| Indent Indent Indent67703-9 | Other infant factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent67706-2 | Maternal factors that affect newborn screening interpretation | O | 0..* | |
| Indent Indent Indent67707-0 | Other maternal factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent77739-1 | Mother's Hepatitis B virus surface Ag status | C | ||
| Indent Indent Indent57712-2 | Highest level of education Mother | O | 0..1 | |
| Indent Indent Indent67704-7 | Feeding types | R | 1..* | |
| Indent Indent Indent67705-4 | Other feeding types Narrative | C | 0..* | |
| Indent Indent Indent79569-0 | Blood product given [Type] | C | ||
| Indent Indent Indent62317-3 | Date of last blood product transfusion | O | 0..1 | |
| Indent Indent Indent58232-0 | Hearing loss risk indicators [Identifier] | C | 1..* | |
| Indent Indent Indent54106-0 | Newborn hearing screen method | C | ||
| Indent Indent Indent54108-6 | Newborn hearing screen of Ear - left | C | ||
| Indent Indent Indent54109-4 | Newborn hearing screen of Ear - right | C | ||
| Indent Indent Indent73700-7 | CCHD newborn screening interpretation | C | ||
| Indent Indent Indent73698-3 | Reason CCHD oxygen saturation screening not performed | C | ||
| Indent Indent Indent57723-9 | Unique bar code number of Current sample | R | ||
| Indent Indent Indent57711-4 | Unique bar code number of Initial sample | C | ||
| Indent Indent Indent62323-1 | Post-discharge provider ID [Identifier] | C | 0..1 | |
| Indent Indent Indent62324-9 | Post-discharge provider name in Provider | C | 0..1 | |
| Indent Indent Indent62325-6 | Post-discharge provider practice ID | C | 0..1 | |
| Indent Indent Indent62326-4 | Post-discharge provider practice name | C | 0..1 | |
| Indent Indent Indent62327-2 | Post-discharge provider practice address | C | 0..1 | |
| Indent Indent Indent62328-0 | Post-discharge provider practice phone number | C | 0..1 | |
| Indent Indent Indent62329-8 | Birth hospital facility ID | C | 0..1 | |
| Indent Indent Indent62330-6 | Birth hospital facility name | C | 0..1 | |
| Indent Indent Indent62331-4 | Birth hospital facility address | C | 0..1 | |
| Indent Indent Indent62332-2 | Birth hospital facility phone number | C | 0..1 | |
| Indent Indent57721-3 | Reason for lab test in Dried blood spot | R | 1..1 | |
| Indent Indent57718-9 | Sample quality of Dried blood spot | R | 1..1 | |
| Indent Indent57130-7 | Newborn screening report - overall interpretation | C | 1..* | |
| Indent Indent57131-5 | Newborn conditions with positive markers [Identifier] in DBS | R | 1..* | |
| Indent Indent57720-5 | Newborn conditions with equivocal markers [Identifier] in DBS | R | 1..* | |
| Indent Indent57724-7 | Newborn screening short narrative summary | O | 0..1 | |
| Indent Indent57129-9 | Full newborn screening summary report for display or printing | O | 0..1 | |
| Indent Indent57719-7 | Conditions tested for in this newborn screening study [Identifier] in DBS | R | 1..* | |
| Indent Indent69969-4 | Newborn screening report overall laboratory comment | O | 0..* |
LOINC Names Get Info
- Fully-Specified Name
- Newborn screening panel:
-: Pt: ^Patient: -: AHIC - Long Common Name
- Newborn screening panel American Health Information Community (AHIC)
- Short Name
- NB Screen Pnl Patient AHIC
- Display Name
- NBS panel AHIC
- Consumer Name Alpha Get Info
- NBS panel
Part Model Get Info
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77 (PANEL)
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 1192
- Panel Type
- Panel
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| ar-JO | Arabic (Jordan) | فحص حديثي الولادة حسب لجنة المعلومات الصحية الأمريكية |
| cs-CZ | Czech (Czechia) | Novorozenecký screening panel: |
| el-GR | Greek (Greece) | Πίνακας εξετάσεων διαλογής νεογνών: Synonyms: - AHIC CHEM PANEL.CHEM Pt Ασθενής Πίνακας εξετάσεων διαλογής νεογνών |
| es-ES | Spanish (Spain) | Panel de screening del recien nacido: |
| es-MX | Spanish (Mexico) | Panel de detección de recién nacidos: |
| fr-CA | French (Canada) | Dépistage néonatal: |
| fr-BE | French (Belgium) | Dépistage néonatal: |
| it-IT | Italian (Italy) | Screening neonatale, panel: 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: Synonyms: American Health Information Community |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem painel: Synonyms: ; |
| zh-CN | Chinese (China) | 新生儿筛查组套: Synonyms: Asympt SCN 化学; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- 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
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://