54089-8  Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC    
       57128-1   Newborn Screening Report summary panelNewborn Screening Report summary panelNewborn Screening Report summary panel: -: Pt: ^Patient: -: C 0..1   
            57721-3   Reason for lab test in Dried blood spotReason for lab test in Dried blood spotReason for lab test: Type: Pt: Bld.dot: Nom: R 1..1   
            57718-9   Sample quality of Dried blood spotSample quality of Dried blood spotSample condition: Type: Pt: Bld.dot: Nom: R 1..1   
            57130-7   Newborn screening report - overall interpretationNewborn screening report - overall interpretationNewborn screening report - overall interpretation: Imp: Pt: ^Patient: Nom: C 1..*   
            57131-5   Newborn conditions with positive markers [Identifier] in DBSNewborn conditions with positive markers [Identifier] in DBSNewborn conditions with positive markers: Prid: Pt: Bld.dot: Nom: R 1..*   
            57720-5   Newborn conditions with equivocal markers [Identifier] in DBSNewborn conditions with equivocal markers [Identifier] in DBSNewborn conditions with equivocal markers: Prid: Pt: Bld.dot: Nom: R 1..*   
            57724-7   Newborn screening short narrative summaryNewborn screening short narrative summaryNewborn screening short narrative summary: Txt: Pt: ^Patient: Nar: O 0..1   
            57129-9   Full newborn screening summary report for display or printingFull newborn screening summary report for display or printingFull newborn screening summary report for display or printing: -: Pt: ^Patient: Doc: O 0..1   
            57719-7   Conditions tested for in this newborn screening study [Identifier] in DBSConditions tested for in this newborn screening study [Identifier] in DBSConditions tested for in this newborn screening study: ID: Pt: Bld.dot: Nom: R 1..*   
            69969-4   Newborn screening report overall laboratory commentNewborn screening report overall laboratory commentNewborn screening report overall laboratory comment: Txt: Pt: ^Patient: Nar: O 0..*   
       57717-1   Newborn screen card data panelNewborn screen card data panelNewborn screen card data panel: -: Pt: Bld.dot: -: C    
            57716-3   State printed on filter paper card [Identifier] in NBS cardState printed on filter paper card [Identifier] in NBS cardState printed on filter paper card: ID: Pt: NBS card: Nom: R    
            79566-6   Collection method - DBSCollection method - DBSCollection method: Type: Pt: Bld.dot: Nom: O    
            8339-4   Birthweight R  
            58229-6   Body weight Measured --when specimen takenBody weight Measured --when specimen takenBody weight^when specimen taken: Mass: Pt: ^Patient: Qn: Measured O  
            57715-5   Time of birth R   {clock_time} 
            73806-2   Newborn age in hoursNewborn age in hoursNewborn age in hours: Time: Pt: ^Patient: Qn: O  
            57722-1   Birth plurality of PregnancyBirth plurality of PregnancyBirth plurality: Num: Pt: Pregnancy: Ord: R    
            57714-8   Obstetric estimation of gestational ageObstetric estimation of gestational ageObstetric estimation of gestational age: Time: Pt: ^Patient: Qn: R   wk 
            57713-0   Infant factors that affect newborn screening interpretationInfant factors that affect newborn screening interpretationInfant factors that affect newborn screening interpretation: Find: Pt: ^Patient: Nom: R 1..*   
            67703-9   Other infant factors that affect newborn screening interpretation NarrativeOther infant factors that affect newborn screening interpretation NarrativeOther infant factors that affect newborn screening interpretation: Find: Pt: ^Patient: Nar: C 0..*   
            67706-2   Maternal factors that affect newborn screening interpretationMaternal factors that affect newborn screening interpretationMaternal factors that affect newborn screening interpretation: Find: Pt: ^Mother: Nom: O 0..*   
            67707-0   Other maternal factors that affect newborn screening interpretation NarrativeOther maternal factors that affect newborn screening interpretation NarrativeOther maternal factors that affect newborn screening interpretation: Find: Pt: ^Mother: Nar: C 0..*   
            77739-1   Mother's Hepatitis B virus surface Ag statusMother's Hepatitis B virus surface Ag statusHepatitis B virus surface Ag: PrThr: Pt: ^Mother: Ord: C    
            57712-2   Mother's educationMother's educationMother's education: Hx: Pt: ^Mother: Ord: O 0..1   
            67704-7   Feeding typesFeeding typesFeeding types: Find: Pt: ^Patient: Nom: R 1..*   
            67705-4   Other feeding types NarrativeOther feeding types NarrativeOther feeding types: Find: Pt: ^Patient: Nar: C 0..*   
            79569-0   Blood product given [Type]Blood product given [Type]Blood product given: Type: Pt: ^Patient: Nom: C    
            62317-3   Date of last blood product transfusionDate of last blood product transfusionDate of last blood product transfusion: TmStp: Pt: ^Patient: Qn: O 0..1   
            58232-0   Hearing loss risk indicators [Identifier]Hearing loss risk indicators [Identifier]Hearing loss risk indicators: Prid: Pt: ^Patient: Nom: C 1..*   
            54106-0   Newborn hearing screen methodNewborn hearing screen methodNewborn hearing screen method: Type: Pt: Ear: Nom: C    
            54108-6   Newborn hearing screen of Ear - leftNewborn hearing screen of Ear - leftNewborn hearing screen: Arb: Pt: Ear.left: Ord: C    
            54109-4   Newborn hearing screen of Ear - rightNewborn hearing screen of Ear - rightNewborn hearing screen: Arb: Pt: Ear.right: Ord: C    
            73700-7   CCHD newborn screening interpretationCCHD newborn screening interpretationCCHD newborn screening interpretation: Imp: Pt: ^Patient: Nom: C    
            73698-3   Reason CCHD oxygen saturation screening not performedReason CCHD oxygen saturation screening not performedReason CCHD oxygen saturation screening not performed: Find: Pt: ^Patient: Nom: C    
            57723-9   Unique bar code number of Current sampleUnique bar code number of Current sampleUnique bar code number: ID: Pt: Current sample: Nom: R    
            57711-4   Unique bar code number of Initial sampleUnique bar code number of Initial sampleUnique bar code number: ID: Pt: Initial sample: Nom: C    
            62323-1   Post-discharge provider ID [Identifier]Post-discharge provider ID [Identifier]Post-discharge provider ID: ID: Pt: Provider: Nom: C 0..1   
            62324-9   Post-discharge provider name in ProviderPost-discharge provider name in ProviderPost-discharge provider name: Pn: Pt: Provider: Nom: C 0..1   
            62325-6   Post-discharge provider practice IDPost-discharge provider practice IDPost-discharge provider practice ID: ID: Pt: Provider: Nom: C 0..1   
            62326-4   Post-discharge provider practice namePost-discharge provider practice namePost-discharge provider practice name: ID: Pt: Provider: Nom: C 0..1   
            62327-2   Post-discharge provider practice addressPost-discharge provider practice addressPost-discharge provider practice address: Addr: Pt: Provider: Nom: C 0..1   
            62328-0   Post-discharge provider practice telephone numberPost-discharge provider practice telephone numberPost-discharge provider practice telephone number: Tele: Pt: Provider: Nom: C 0..1   
            62329-8   Birth hospital facility ID [Identifier] in FacilityBirth hospital facility ID [Identifier] in FacilityBirth hospital facility ID: ID: Pt: Facility: Nom: C 0..1   
            62330-6   Birth hospital facility nameBirth hospital facility nameBirth hospital facility name: ID: Pt: Facility: Nom: C 0..1   
            62331-4   Birth hospital facility addressBirth hospital facility addressBirth hospital facility address: Addr: Pt: Facility: Nom: C 0..1   
            62332-2   Birth hospital facility phone number in FacilityBirth hospital facility phone number in FacilityBirth hospital facility phone number: Tele: Pt: Facility: Nom: C 0..1   
       57794-0   Newborn screening test results panel - Dried blood spot C    
            53261-4   Amino acid newborn screen panelAmino acid newborn screen panelAmino acid newborn screen panel: SCnc: Pt: Bld.dot: -: C    
                 46733-2   Amino acidemias newborn screen interpretationAmino acidemias newborn screen interpretationAmino acidemias: Imp: Pt: Bld.dot: Nom: C    
                 57710-6   Amino acidemias newborn screening comment-discussionAmino acidemias newborn screening comment-discussionAmino acidemias newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 57793-2   Amino acidemia disorder suspected [Identifier] in DBSAmino acidemia disorder suspected [Identifier] in DBSAmino acidemia disorder suspected: Prid: Pt: Bld.dot: Nom: C    
                 46746-4   Phenylketonuria and variants/​Biopterin defects newborn screen interpretationPhenylketonuria and variants/​Biopterin defects newborn screen interpretationPhenylketonuria and variants &or biopterin defects: Imp: Pt: Bld.dot: Nom: C    
                 58231-2   Phenylketonuria and variants/​Biopterin defects newborn screening comment-discussionPhenylketonuria and variants/​Biopterin defects newborn screening comment-discussionPhenylketonuria and variants &or biopterin defects newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 46743-1   Maple syrup urine disease newborn screen interpretationMaple syrup urine disease newborn screen interpretationMaple syrup urine disease: Imp: Pt: Bld.dot: Nom: C    
                 58230-4   Maple syrup urine disease newborn screening comment-discussionMaple syrup urine disease newborn screening comment-discussionMaple syrup urine disease newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 47539-2   3-Methylhistidine [Moles/​volume] in DBS3-Methylhistidine [Moles/​volume] in DBS3-Methylhistidine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53232-5   5-Oxoproline+​Pipecolate [Moles/​volume] in DBS5-Oxoproline+​Pipecolate [Moles/​volume] in DBS5-Oxoproline+​Pipecolate: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53394-3   5-Oxoproline+​Pipecolate/​Phenylalanine [Molar ratio] in DBS5-Oxoproline+​Pipecolate/​Phenylalanine [Molar ratio] in DBS5-Oxoproline+​Pipecolate/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53150-9   Alanine+​Beta Alanine+​Sarcosine [Moles/​volume] in DBSAlanine+​Beta Alanine+​Sarcosine [Moles/​volume] in DBSAlanine+​Beta Alanine+​Sarcosine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53393-5   Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline+​Valine/​Phenylalanine+​Tyrosine [Molar ratio] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline+​Valine/​Phenylalanine+​Tyrosine [Molar ratio] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline+​Valine/​Phenylalanine+​Tyrosine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53152-5   Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline [Moles/​volume] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline [Moles/​volume] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53153-3   Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline/​Phenylalanine [Molar ratio] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline/​Phenylalanine [Molar ratio] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53154-1   Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline/​Alanine [Molar ratio] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline/​Alanine [Molar ratio] in DBSAlloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline/​Alanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 47562-4   Arginine [Moles/​volume] in DBSArginine [Moles/​volume] in DBSArginine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 75214-7   Arginine/​Ornithine [Molar ratio] in DBSArginine/​Ornithine [Molar ratio] in DBSArginine/​Ornithine: SRto: Pt: Bld.dot: Qn: C   {ratio} 
                 53398-4   Arginine/​Phenylalanine [Molar ratio] in DBSArginine/​Phenylalanine [Molar ratio] in DBSArginine/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53062-6   Argininosuccinate [Moles/​volume] in DBSArgininosuccinate [Moles/​volume] in DBSArgininosuccinate: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53200-2   Argininosuccinate/​Arginine [Molar ratio] in DBSArgininosuccinate/​Arginine [Molar ratio] in DBSArgininosuccinate/​Arginine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53155-8   Asparagine+​Ornithine [Moles/​volume] in DBSAsparagine+​Ornithine [Moles/​volume] in DBSAsparagine+​Ornithine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53395-0   Asparagine+​Ornithine/​Serine [Molar ratio] in DBSAsparagine+​Ornithine/​Serine [Molar ratio] in DBSAsparagine+​Ornithine/​Serine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53396-8   Asparagine+​Ornithine/​Phenylalanine [Molar ratio] in DBSAsparagine+​Ornithine/​Phenylalanine [Molar ratio] in DBSAsparagine+​Ornithine/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 47573-1   Aspartate [Moles/​volume] in DBSAspartate [Moles/​volume] in DBSAspartate: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 42892-0   Citrulline [Moles/​volume] in DBSCitrulline [Moles/​volume] in DBSCitrulline: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 54092-2   Citrulline/​Arginine [Molar ratio] in DBSCitrulline/​Arginine [Molar ratio] in DBSCitrulline/​Arginine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53157-4   Citrulline/​Phenylalanine [Molar ratio] in DBSCitrulline/​Phenylalanine [Molar ratio] in DBSCitrulline/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53399-2   Citrulline/​Tyrosine [Molar ratio] in DBSCitrulline/​Tyrosine [Molar ratio] in DBSCitrulline/​Tyrosine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 47623-4   Glutamate [Moles/​volume] in DBSGlutamate [Moles/​volume] in DBSGlutamate: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 47633-3   Glycine [Moles/​volume] in DBSGlycine [Moles/​volume] in DBSGlycine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 47643-2   Histidine [Moles/​volume] in DBSHistidine [Moles/​volume] in DBSHistidine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53158-2   Homocitrulline [Moles/​volume] in DBSHomocitrulline [Moles/​volume] in DBSHomocitrulline: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 47689-5   Lysine [Moles/​volume] in DBSLysine [Moles/​volume] in DBSLysine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 47700-0   Methionine [Moles/​volume] in DBSMethionine [Moles/​volume] in DBSMethionine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53397-6   Methionine/​Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline [Molar ratio] in DBSMethionine/​Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline [Molar ratio] in DBSMethionine/​Alloisoleucine+​Isoleucine+​Leucine+​Hydroxyproline: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 53156-6   Methionine/​Phenylalanine [Molar ratio] in DBSMethionine/​Phenylalanine [Molar ratio] in DBSMethionine/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 75215-4   Ornithine/​Citrulline [Molar ratio] in DBSOrnithine/​Citrulline [Molar ratio] in DBSOrnithine/​Citrulline: SRto: Pt: Bld.dot: Qn: C   {ratio} 
                 29573-3   Phenylalanine [Moles/​volume] in DBSPhenylalanine [Moles/​volume] in DBSPhenylalanine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 35572-7   Phenylalanine/​Tyrosine [Molar ratio] in DBSPhenylalanine/​Tyrosine [Molar ratio] in DBSPhenylalanine/​Tyrosine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 47732-3   Proline [Moles/​volume] in DBSProline [Moles/​volume] in DBSProline: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53392-7   Proline/​Phenylalanine [Molar ratio] in DBSProline/​Phenylalanine [Molar ratio] in DBSProline/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                 47742-2   Serine [Moles/​volume] in DBSSerine [Moles/​volume] in DBSSerine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53231-7   Succinylacetone [Moles/​volume] in DBSSuccinylacetone [Moles/​volume] in DBSSuccinylacetone: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 47784-4   Threonine [Moles/​volume] in DBSThreonine [Moles/​volume] in DBSThreonine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53159-0   Tryptophan [Moles/​volume] in DBSTryptophan [Moles/​volume] in DBSTryptophan: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 35571-9   Tyrosine [Moles/​volume] in DBSTyrosine [Moles/​volume] in DBSTyrosine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 47799-2   Valine [Moles/​volume] in DBSValine [Moles/​volume] in DBSValine: SCnc: Pt: Bld.dot: Qn: C   umol/L 
                 53151-7   Valine/​Phenylalanine [Molar ratio] in DBSValine/​Phenylalanine [Molar ratio] in DBSValine/​Phenylalanine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
            58092-8   Acylcarnitine newborn screen panelAcylcarnitine newborn screen panelAcylcarnitine newborn screen panel: -: Pt: Bld.dot: -: C    
                 58088-6   Acylcarnitine newborn screen interpretationAcylcarnitine newborn screen interpretationAcylcarnitine: Imp: Pt: Bld.dot: Nar: C    
                 58093-6   Acylcarnitine newborn screening comment-discussionAcylcarnitine newborn screening comment-discussionAcylcarnitine newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 57084-6   Fatty acid oxidation newborn screen panelFatty acid oxidation newborn screen panelFatty acid oxidation newborn screen panel: -: Pt: Bld.dot: -: C    
                      46736-5   Fatty acid oxidation defects newborn screen interpretationFatty acid oxidation defects newborn screen interpretationFatty acid oxidation defects: Imp: Pt: Bld.dot: Nom: C    
                      57792-4   Fatty acid oxidation conditions suspected [Identifier] in DBSFatty acid oxidation conditions suspected [Identifier] in DBSFatty acid oxidation conditions suspected: Prid: Pt: Bld.dot: Nom: C    
                      57709-8   Fatty acid oxidation defects newborn screening comment-discussionFatty acid oxidation defects newborn screening comment-discussionFatty acid oxidation defects newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                      38481-8   Carnitine free (C0) [Moles/​volume] in DBSCarnitine free (C0) [Moles/​volume] in DBSCarnitine.free (C0): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53233-3   Carnitine free (C0)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSCarnitine free (C0)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSCarnitine.free (C0)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53234-1   Carnitine free (C0)/​Stearoylcarnitine (C18) [Molar ratio] in DBSCarnitine free (C0)/​Stearoylcarnitine (C18) [Molar ratio] in DBSCarnitine.free (C0)/​Stearoylcarnitine (C18): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53235-8   Carnitine free (C0)/​Palmitoylcarnitine (C16)+​Stearoylcarnitine (C18) [Molar ratio] in DBSCarnitine free (C0)/​Palmitoylcarnitine (C16)+​Stearoylcarnitine (C18) [Molar ratio] in DBSCarnitine.free (C0)/​Palmitoylcarnitine (C16)+​Stearoylcarnitine (C18): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53236-6   Carnitine.free (C0)+​Acetylcarnitine (C2)+​Propionylcarnitine (C3)+​Palmitoylcarnitine (C16)+​Oleoylcarnitine (C18:1)+​Stearoylcarnitine (C18)/​Citrulline [Molar ratio] in DBSCarnitine.free (C0)+​Acetylcarnitine (C2)+​Propionylcarnitine (C3)+​Palmitoylcarnitine (C16)+​Oleoylcarnitine (C18:1)+​Stearoylcarnitine (C18)/​Citrulline [Molar ratio] in DBSCarnitine.free (C0)+​Acetylcarnitine (C2)+​Propionylcarnitine (C3)+​Palmitoylcarnitine (C16)+​Oleoylcarnitine (C18:1)+​Stearoylcarnitine (C18)/​Citrulline: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      75211-3   Propionylcarnitine (C3)+​Palmitoylcarnitine (C16) [Moles/​volume] in DBSPropionylcarnitine (C3)+​Palmitoylcarnitine (C16) [Moles/​volume] in DBSPropionylcarnitine (C3)+​Palmitoylcarnitine (C16): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      75212-1   Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10) [Molar ratio] in DBSMalonylcarnitine (C3-DC)/​Decanoylcarnitine (C10) [Molar ratio] in DBSMalonylcarnitine (C3-DC)/​Decanoylcarnitine (C10): SRto: Pt: Bld.dot: Qn: C   {ratio} 
                      54462-7   Malonylcarnitine (C3-DC) [Moles/​volume] in DBSMalonylcarnitine (C3-DC) [Moles/​volume] in DBSMalonylcarnitine (C3-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      75213-9   Malonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH)/​Decanoylcarnitine (C10) [Molar ratio] in DBSMalonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH)/​Decanoylcarnitine (C10) [Molar ratio] in DBSMalonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH)/​Decanoylcarnitine (C10): SRto: Pt: Bld.dot: Qn: C   {ratio} 
                      50157-7   Acetylcarnitine (C2) [Moles/​volume] in DBSAcetylcarnitine (C2) [Moles/​volume] in DBSAcetylcarnitine (C2): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53166-5   Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Moles/​volume] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4) [Moles/​volume] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53167-3   Butyrylcarnitine+​Isobutyrylcarnitine (C4)/​Acetylcarnitine (C2) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Acetylcarnitine (C2) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Acetylcarnitine (C2): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53168-1   Butyrylcarnitine+​Isobutyrylcarnitine (C4)/​Propionylcarnitine (C3) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Propionylcarnitine (C3) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Propionylcarnitine (C3): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53169-9   Butyrylcarnitine+​Isobutyrylcarnitine (C4)/​Octanoylcarnitine (C8) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Octanoylcarnitine (C8) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      50102-3   3-Hydroxybutyrylcarnitine (C4-OH) [Moles/​volume] in DBS3-Hydroxybutyrylcarnitine (C4-OH) [Moles/​volume] in DBS3-Hydroxybutyrylcarnitine (C4-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      45211-0   Hexanoylcarnitine (C6) [Moles/​volume] in DBSHexanoylcarnitine (C6) [Moles/​volume] in DBSHexanoylcarnitine (C6): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53173-1   3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/​volume] in DBS3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/​volume] in DBS3-Hydroxyhexanoylcarnitine (C6-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      45207-8   Glutarylcarnitine (C5-DC) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53174-9   Octenoylcarnitine (C8:1) [Moles/​volume] in DBSOctenoylcarnitine (C8:1) [Moles/​volume] in DBSOctenoylcarnitine (C8:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53175-6   Octanoylcarnitine (C8) [Moles/​volume] in DBSOctanoylcarnitine (C8) [Moles/​volume] in DBSOctanoylcarnitine (C8): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53176-4   Octanoylcarnitine (C8)/​Acetylcarnitine (C2) [Molar ratio] in DBSOctanoylcarnitine (C8)/​Acetylcarnitine (C2) [Molar ratio] in DBSOctanoylcarnitine (C8)/​Acetylcarnitine (C2): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53177-2   Octanoylcarnitine (C8)/​Decanoylcarnitine (C10) [Molar ratio] in DBSOctanoylcarnitine (C8)/​Decanoylcarnitine (C10) [Molar ratio] in DBSOctanoylcarnitine (C8)/​Decanoylcarnitine (C10): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53178-0   3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC) [Moles/​volume] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC) [Moles/​volume] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53402-4   3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53179-8   3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53180-6   Decadienoylcarnitine (C10:2) [Moles/​volume] in DBSDecadienoylcarnitine (C10:2) [Moles/​volume] in DBSDecadienoylcarnitine (C10:2): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      45198-9   Decenoylcarnitine (C10:1) [Moles/​volume] in DBSDecenoylcarnitine (C10:1) [Moles/​volume] in DBSDecenoylcarnitine (C10:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      45197-1   Decanoylcarnitine (C10) [Moles/​volume] in DBSDecanoylcarnitine (C10) [Moles/​volume] in DBSDecanoylcarnitine (C10): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53182-2   3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/​volume] in DBS3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/​volume] in DBS3-Hydroxydecenoylcarnitine (C10:1-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53183-0   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53403-2   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53184-8   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​3-Hydroxyisovalerylcarnitine (C5-OH): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53185-5   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53186-3   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      45200-3   Dodecenoylcarnitine (C12:1) [Moles/​volume] in DBSDodecenoylcarnitine (C12:1) [Moles/​volume] in DBSDodecenoylcarnitine (C12:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      45199-7   Dodecanoylcarnitine (C12) [Moles/​volume] in DBSDodecanoylcarnitine (C12) [Moles/​volume] in DBSDodecanoylcarnitine (C12): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53188-9   3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/​volume] in DBS3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/​volume] in DBS3-Hydroxydodecenoylcarnitine (C12:1-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53189-7   3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/​volume] in DBS3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/​volume] in DBS3-Hydroxydodecanoylcarnitine (C12-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53190-5   Tetradecadienoylcarnitine (C14:2) [Moles/​volume] in DBSTetradecadienoylcarnitine (C14:2) [Moles/​volume] in DBSTetradecadienoylcarnitine (C14:2): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53191-3   Tetradecenoylcarnitine (C14:1) [Moles/​volume] in DBSTetradecenoylcarnitine (C14:1) [Moles/​volume] in DBSTetradecenoylcarnitine (C14:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53192-1   Tetradecanoylcarnitine (C14) [Moles/​volume] in DBSTetradecanoylcarnitine (C14) [Moles/​volume] in DBSTetradecanoylcarnitine (C14): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53193-9   Tetradecenoylcarnitine (C14:1)/​Acetylcarnitine (C2) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Acetylcarnitine (C2) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Acetylcarnitine (C2): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53194-7   Tetradecenoylcarnitine (C14:1)/​Dodecenoylcarnitine (C12:1) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Dodecenoylcarnitine (C12:1) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Dodecenoylcarnitine (C12:1): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53195-4   Tetradecenoylcarnitine (C14:1)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      70159-9   Tetradecenoylcarnitine (C14:1)/​Tetradecanoylcarnitine (C14) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Tetradecanoylcarnitine (C14) [Molar ratio] in DBSTetradecenoylcarnitine (C14:1)/​Tetradecanoylcarnitine (C14): SRto: Pt: Bld.dot: Qn: C   {ratio} 
                      53196-2   3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/​volume] in DBS3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/​volume] in DBS3-Hydroxytetradecadienoylcarnitine (C14:2-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53197-0   3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/​volume] in DBS3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/​volume] in DBS3-Hydroxytetradecenoylcarnitine (C14:1-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      50281-5   3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/​volume] in DBS3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/​volume] in DBS3-Hydroxytetradecanoylcarnitine (C14-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53198-8   Palmitoleylcarnitine (C16:1) [Moles/​volume] in DBSPalmitoleylcarnitine (C16:1) [Moles/​volume] in DBSPalmitoleylcarnitine (C16:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53199-6   Palmitoylcarnitine (C16) [Moles/​volume] in DBSPalmitoylcarnitine (C16) [Moles/​volume] in DBSPalmitoylcarnitine (C16): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      50121-3   3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/​volume] in DBS3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/​volume] in DBS3-Hydroxypalmitoleylcarnitine (C16:1-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      50125-4   3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/​volume] in DBS3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/​volume] in DBS3-Hydroxypalmitoylcarnitine (C16-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53201-0   3-Hydroxypalmitoylcarnitine (C16-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBS3-Hydroxypalmitoylcarnitine (C16-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBS3-Hydroxypalmitoylcarnitine (C16-OH)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      45217-7   Linoleoylcarnitine (C18:2) [Moles/​volume] in DBSLinoleoylcarnitine (C18:2) [Moles/​volume] in DBSLinoleoylcarnitine (C18:2): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53202-8   Oleoylcarnitine (C18:1) [Moles/​volume] in DBSOleoylcarnitine (C18:1) [Moles/​volume] in DBSOleoylcarnitine (C18:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53241-6   Stearoylcarnitine (C18) [Moles/​volume] in DBSStearoylcarnitine (C18) [Moles/​volume] in DBSStearoylcarnitine (C18): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53400-8   Stearoylcarnitine (C18)/​Propionylcarnitine (C3) [Molar ratio] in DBSStearoylcarnitine (C18)/​Propionylcarnitine (C3) [Molar ratio] in DBSStearoylcarnitine (C18)/​Propionylcarnitine (C3): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      50109-8   3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/​volume] in DBS3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/​volume] in DBS3-Hydroxylinoleoylcarnitine (C18:2-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      50113-0   3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/​volume] in DBS3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/​volume] in DBS3-Hydroxyoleoylcarnitine (C18:1-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      50132-0   3-Hydroxystearoylcarnitine (C18-OH) [Moles/​volume] in DBS3-Hydroxystearoylcarnitine (C18-OH) [Moles/​volume] in DBS3-Hydroxystearoylcarnitine (C18-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53836-3   ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method NarrativeABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method NarrativeABCD1 gene targeted mutation analysis: Prid: Pt: Bld/​Tiss: Nar: Molgen    
                 57085-3   Organic acid newborn screen panelOrganic acid newborn screen panelOrganic acid newborn screen panel: -: Pt: Bld.dot: -: C    
                      46744-9   Organic acidemias newborn screen interpretationOrganic acidemias newborn screen interpretationOrganic acidemias: Imp: Pt: Bld.dot: Nom: C    
                      57791-6   Organic acidemia conditions suspected [Identifier] in DBSOrganic acidemia conditions suspected [Identifier] in DBSOrganic acidemia conditions suspected: Prid: Pt: Bld.dot: Nom: C    
                      57708-0   Organic acidemias defects newborn screening comment-discussionOrganic acidemias defects newborn screening comment-discussionOrganic acidemias defects newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                      50157-7   Acetylcarnitine (C2) [Moles/​volume] in DBSAcetylcarnitine (C2) [Moles/​volume] in DBSAcetylcarnitine (C2): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53237-4   Acrylylcarnitine (C3:1) [Moles/​volume] in DBSAcrylylcarnitine (C3:1) [Moles/​volume] in DBSAcrylylcarnitine (C3:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53160-8   Propionylcarnitine (C3) [Moles/​volume] in DBSPropionylcarnitine (C3) [Moles/​volume] in DBSPropionylcarnitine (C3): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53161-6   Propionylcarnitine (C3)/​Methionine [Molar ratio] in DBSPropionylcarnitine (C3)/​Methionine [Molar ratio] in DBSPropionylcarnitine (C3)/​Methionine: SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53162-4   Propionylcarnitine (C3)/​Carnitine.free (C0) [Molar ratio] in DBSPropionylcarnitine (C3)/​Carnitine.free (C0) [Molar ratio] in DBSPropionylcarnitine (C3)/​Carnitine.free (C0): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53163-2   Propionylcarnitine (C3)/​Acetylcarnitine (C2) [Molar ratio] in DBSPropionylcarnitine (C3)/​Acetylcarnitine (C2) [Molar ratio] in DBSPropionylcarnitine (C3)/​Acetylcarnitine (C2): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      54462-7   Malonylcarnitine (C3-DC) [Moles/​volume] in DBSMalonylcarnitine (C3-DC) [Moles/​volume] in DBSMalonylcarnitine (C3-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      67708-8   Malonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH) [Moles/​volume] in DBSMalonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH) [Moles/​volume] in DBSMalonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      75213-9   Malonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH)/​Decanoylcarnitine (C10) [Molar ratio] in DBSMalonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH)/​Decanoylcarnitine (C10) [Molar ratio] in DBSMalonylcarnitine (C3-DC)+​3-Hydroxybutyrylcarnitine (C4-OH)/​Decanoylcarnitine (C10): SRto: Pt: Bld.dot: Qn: C   {ratio} 
                      53164-0   Propionylcarnitine (C3)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSPropionylcarnitine (C3)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSPropionylcarnitine (C3)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53166-5   Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Moles/​volume] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4) [Moles/​volume] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53167-3   Butyrylcarnitine+​Isobutyrylcarnitine (C4)/​Acetylcarnitine (C2) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Acetylcarnitine (C2) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Acetylcarnitine (C2): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53168-1   Butyrylcarnitine+​Isobutyrylcarnitine (C4)/​Propionylcarnitine (C3) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Propionylcarnitine (C3) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Propionylcarnitine (C3): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53169-9   Butyrylcarnitine+​Isobutyrylcarnitine (C4)/​Octanoylcarnitine (C8) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Octanoylcarnitine (C8) [Molar ratio] in DBSButyrylcarnitine+​Isobutyrylcarnitine (C4)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53170-7   Tiglylcarnitine (C5:1) [Moles/​volume] in DBSTiglylcarnitine (C5:1) [Moles/​volume] in DBSTiglylcarnitine (C5:1): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      45207-8   Glutarylcarnitine (C5-DC) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      75216-2   Glutarylcarnitine (C5-DC)/​Malonylcarnitine (C3-DC) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)/​Malonylcarnitine (C3-DC) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)/​Malonylcarnitine (C3-DC): SRto: Pt: Bld.dot: Qn:   {ratio} 
                      67701-3   Glutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      67710-4   Glutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      67711-2   Glutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxyhexanoylcarnitine (C6-OH)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      45216-9   Isovalerylcarnitine+​Methylbutyrylcarnitine (C5) [Moles/​volume] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5) [Moles/​volume] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53238-2   Isovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Carnitine.free (C0) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Carnitine.free (C0) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Carnitine.free (C0): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53239-0   Isovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Acetylcarnitine (C2) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Acetylcarnitine (C2) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Acetylcarnitine (C2): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53240-8   Isovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Propionylcarnitine (C3) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Propionylcarnitine (C3) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Propionylcarnitine (C3): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53401-6   Isovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Octanoylcarnitine (C8) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Octanoylcarnitine (C8) [Molar ratio] in DBSIsovalerylcarnitine+​Methylbutyrylcarnitine (C5)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      50106-4   3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/​volume] in DBS3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/​volume] in DBS3-Hydroxyisovalerylcarnitine (C5-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53171-5   3-Hydroxyisovalerylcarnitine (C5-OH)/​Carnitine.free (C0) [Molar ratio] in DBS3-Hydroxyisovalerylcarnitine (C5-OH)/​Carnitine.free (C0) [Molar ratio] in DBS3-Hydroxyisovalerylcarnitine (C5-OH)/​Carnitine.free (C0): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53172-3   3-Hydroxyisovalerylcarnitine (C5-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBS3-Hydroxyisovalerylcarnitine (C5-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBS3-Hydroxyisovalerylcarnitine (C5-OH)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53178-0   3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC) [Moles/​volume] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC) [Moles/​volume] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53402-4   3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53179-8   3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10) [Molar ratio] in DBS3-Hydroxyoctanoylcarnitine (C8-OH)+​Malonylcarnitine (C3-DC)/​Decanoylcarnitine (C10): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      45222-7   Methylmalonylcarnitine (C4-DC) [Moles/​volume] in DBSMethylmalonylcarnitine (C4-DC) [Moles/​volume] in DBSMethylmalonylcarnitine (C4-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      67709-6   Methylmalonylcarnitine (C4-DC)+​3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/​volume] in DBSMethylmalonylcarnitine (C4-DC)+​3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/​volume] in DBSMethylmalonylcarnitine (C4-DC)+​3-Hydroxyisovalerylcarnitine (C5-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53181-4   Methylmalonylcarnitine (C4-DC)/​3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBSMethylmalonylcarnitine (C4-DC)/​3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBSMethylmalonylcarnitine (C4-DC)/​3-Hydroxyisovalerylcarnitine (C5-OH): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53183-0   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH) [Moles/​volume] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53403-2   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Butyrylcarnitine+​Isobutyrylcarnitine (C4): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53184-8   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​3-Hydroxyisovalerylcarnitine (C5-OH): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53185-5   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Octanoylcarnitine (C8) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Octanoylcarnitine (C8): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53186-3   Glutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Palmitoylcarnitine (C16) [Molar ratio] in DBSGlutarylcarnitine (C5-DC)+​3-Hydroxydecanoylcarnitine (C10-OH)/​Palmitoylcarnitine (C16): SRto: Pt: Bld.dot: Qn: C   {Ratio} 
                      53187-1   Methylglutarylcarnitine (C6-DC) [Moles/​volume] in DBSMethylglutarylcarnitine (C6-DC) [Moles/​volume] in DBSMethylglutarylcarnitine (C6-DC): SCnc: Pt: Bld.dot: Qn: C   umol/L 
                      53165-7   Formiminoglutamate [Moles/​volume] in DBSFormiminoglutamate [Moles/​volume] in DBSFormiminoglutamate: SCnc: Pt: Bld.dot: Qn: C   umol/L 
            54078-1   Cystic fibrosis newborn screening panelCystic fibrosis newborn screening panelCystic fibrosis newborn screening panel: -: Pt: ^Patient: -: C    
                 46769-6   Cystic fibrosis newborn screen interpretationCystic fibrosis newborn screen interpretationCystic fibrosis: Imp: Pt: Bld.dot: Nom: R 1..1   
                 57707-2   Cystic fibrosis newborn screening comment-discussionCystic fibrosis newborn screening comment-discussionCystic fibrosis newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 54083-1   CFTR gene mutations found [Identifier] in DBS NominalCFTR gene mutations found [Identifier] in DBS NominalCFTR gene targeted mutation analysis: Prid: Pt: Bld.dot: Nom: C    
                 2077-6   Chloride [Moles/​volume] in SweatChloride [Moles/​volume] in SweatChloride: SCnc: Pt: Sweat: Qn: C   mmol/L 
                 48633-2   Trypsinogen I Free [Mass/​volume] in DBSTrypsinogen I Free [Mass/​volume] in DBSTrypsinogen I.free: MCnc: Pt: Bld.dot: Qn: C   ug/L 
            54076-5   Endocrine newborn screening panelEndocrine newborn screening panelEndocrine newborn screening panel: -: Pt: Bld.dot: -: C    
                 57086-1   Congenital adrenal hyperplasia newborn screening panelCongenital adrenal hyperplasia newborn screening panelCongenital adrenal hyperplasia newborn screening panel: -: Pt: Bld.dot: -: C    
                      46758-9   Congenital adrenal hyperplasia newborn screen interpretationCongenital adrenal hyperplasia newborn screen interpretationCongenital adrenal hyperplasia: Imp: Pt: Bld.dot: Nom: R 1..1   
                      57706-4   Congenital adrenal hyperplasia newborn screening comment-discussionCongenital adrenal hyperplasia newborn screening comment-discussionCongenital adrenal hyperplasia newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                      53347-1   11-Deoxycorticosterone [Mass/​volume] in DBS11-Deoxycorticosterone [Mass/​volume] in DBS11-Deoxycorticosterone: MCnc: Pt: Bld.dot: Qn: C   ng/dL 
                      53338-0   11-Deoxycortisol [Mass/​volume] in DBS11-Deoxycortisol [Mass/​volume] in DBS11-Deoxycortisol: MCnc: Pt: Bld.dot: Qn: C   ug/dL 
                      38473-5   17-Hydroxyprogesterone [Mass/​volume] in DBS17-Hydroxyprogesterone [Mass/​volume] in DBS17-Hydroxyprogesterone: MCnc: Pt: Bld.dot: Qn: C   ng/mL 
                      53336-4   17-Hydroxyprogesterone+​Androstenedione/​Cortisol [Mass Ratio] in DBS17-Hydroxyprogesterone+​Androstenedione/​Cortisol [Mass Ratio] in DBS17-Hydroxyprogesterone+​Androstenedione/​Cortisol: MRto: Pt: Bld.dot: Qn: C   {ratio} 
                      53341-4   21-Deoxycortisol [Mass/​volume] in DBS21-Deoxycortisol [Mass/​volume] in DBS21-Deoxycortisol: MCnc: Pt: Bld.dot: Qn: C   ug/dL 
                      53343-0   Androstenedione [Mass/​volume] in DBSAndrostenedione [Mass/​volume] in DBSAndrostenedione: MCnc: Pt: Bld.dot: Qn: C   ng/dL 
                      53345-5   Cortisol [Mass/​volume] in DBSCortisol [Mass/​volume] in DBSCortisol: MCnc: Pt: Bld.dot: Qn: C   ug/dL 
                 54090-6   Thyroid newborn screening panelThyroid newborn screening panelThyroid newborn screening panel: -: Pt: Bld.dot: -: C    
                      46762-1   Congenital hypothyroidism newborn screen interpretationCongenital hypothyroidism newborn screen interpretationCongenital hypothyroidism: Imp: Pt: Bld.dot: Nom: R    
                      57705-6   Congenital hypothyroidism newborn screening comment-discussionCongenital hypothyroidism newborn screening comment-discussionCongenital hypothyroidism newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                      31144-9   Thyroxine (T4) [Mass/​volume] in DBSThyroxine (T4) [Mass/​volume] in DBSThyroxine: MCnc: Pt: Bld.dot: Qn: C   ug/dL 
                      29575-8   Thyrotropin [Units/​volume] in DBSThyrotropin [Units/​volume] in DBSThyrotropin: ACnc: Pt: Bld.dot: Qn: C   m[IU]/L 
            54079-9   Galactosemia newborn screening panelGalactosemia newborn screening panelGalactosemia newborn screening panel: -: Pt: Bld.dot: -: C    
                 46737-3   Galactosemias newborn screen interpretationGalactosemias newborn screen interpretationGalactosemias: Imp: Pt: Bld.dot: Nom: R 1..1   
                 57704-9   Galactosemias newborn screening comment-discussionGalactosemias newborn screening comment-discussionGalactosemias newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 54084-9   Galactose [Mass/​volume] in DBSGalactose [Mass/​volume] in DBSGalactose: MCnc: Pt: Bld.dot: Qn: C   mg/dL 
                 33288-2   Galactose 1 phosphate uridyl transferase [Presence] in DBSGalactose 1 phosphate uridyl transferase [Presence] in DBSGalactose 1 phosphate uridyl transferase: PrThr: Pt: Bld.dot: Ord: C    
                 42906-8   Galactose 1 phosphate uridyl transferase [Enzymatic activity/​volume] in DBSGalactose 1 phosphate uridyl transferase [Enzymatic activity/​volume] in DBSGalactose 1 phosphate uridyl transferase: CCnc: Pt: Bld.dot: Qn: C   nmol/h/mL 
                 40842-7   Galactose 1 phosphate [Mass/​volume] in DBSGalactose 1 phosphate [Mass/​volume] in DBSGalactose 1 phosphate: MCnc: Pt: Bld.dot: Qn: C   mg/dL 
            54081-5   Hemoglobinopathies newborn screening panelHemoglobinopathies newborn screening panelHemoglobinopathies newborn screening panel: -: Pt: Bld.dot: -: C    
                 64116-7   Hemoglobin observations newborn screening panelHemoglobin observations newborn screening panelHemoglobin observations newborn screening panel: -: Pt: Bld.dot: -:    
                      64122-5   Hemoglobins that can be presumptively identified based on available controls in DBSHemoglobins that can be presumptively identified based on available controls in DBSHemoglobins that can be presumptively identified based on available controls: Find: Pt: Bld.dot: Nom: C    
                      64117-5   Most predominant hemoglobin in DBSMost predominant hemoglobin in DBSMost predominant hemoglobin: Find: Pt: Bld.dot: Nom: C    
                      64118-3   Second most predominant hemoglobin in DBSSecond most predominant hemoglobin in DBSSecond most predominant hemoglobin: Find: Pt: Bld.dot: Nom: C    
                      64119-1   Third most predominant hemoglobin in DBSThird most predominant hemoglobin in DBSThird most predominant hemoglobin: Find: Pt: Bld.dot: Nom: C    
                      64120-9   Fourth most predominant hemoglobin in DBSFourth most predominant hemoglobin in DBSFourth most predominant hemoglobin: Find: Pt: Bld.dot: Nom: C    
                      64121-7   Fifth most predominant hemoglobin in DBSFifth most predominant hemoglobin in DBSFifth most predominant hemoglobin: Find: Pt: Bld.dot: Nom: C    
                 46740-7   Hemoglobin disorders newborn screen interpretationHemoglobin disorders newborn screen interpretationHemoglobin disorders: Imp: Pt: Bld.dot: Nom: R 1..1   
                 57703-1   Hemoglobin disorders newborn screening comment-discussionHemoglobin disorders newborn screening comment-discussionHemoglobin disorders newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 71592-0   Hemoglobinopathies conditions suspected [Identifier] in DBSHemoglobinopathies conditions suspected [Identifier] in DBSHemoglobinopathies conditions suspected: Prid: Pt: Bld.dot: Nom: C    
                 54072-4   Hemoglobin A/​Hemoglobin.total in DBSHemoglobin A/​Hemoglobin.total in DBSHemoglobin A/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 54069-0   Hemoglobin Barts/​Hemoglobin.total in DBSHemoglobin Barts/​Hemoglobin.total in DBSHemoglobin Barts/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 54073-2   Hemoglobin C/​Hemoglobin.total in DBSHemoglobin C/​Hemoglobin.total in DBSHemoglobin C/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 54070-8   Hemoglobin D/​Hemoglobin.total in DBSHemoglobin D/​Hemoglobin.total in DBSHemoglobin D/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 54071-6   Hemoglobin E/​Hemoglobin.total in DBSHemoglobin E/​Hemoglobin.total in DBSHemoglobin E/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 54074-0   Hemoglobin F/​Hemoglobin.total in DBSHemoglobin F/​Hemoglobin.total in DBSHemoglobin F/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 54068-2   Hemoglobin O - Arab/​Hemoglobin.total in DBSHemoglobin O - Arab/​Hemoglobin.total in DBSHemoglobin O-Arab/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
                 56476-5   Hemoglobin S/​Hemoglobin.total in DBSHemoglobin S/​Hemoglobin.total in DBSHemoglobin S/​Hemoglobin.total: MFr: Pt: Bld.dot: Qn: C  
            54082-3   Infectious diseases newborn screening panelInfectious diseases newborn screening panelInfectious diseases newborn screening panel: -: Pt: Bld.dot: -: C    
                 57702-3   Infectious diseases newborn screen interpretationInfectious diseases newborn screen interpretationInfectious diseases: Imp: Pt: Bld.dot: Nom: R 1..1   
                 57701-5   Infectious diseases newborn screening comment-discussionInfectious diseases newborn screening comment-discussionInfectious diseases newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 54086-4   HIV 1+​2 IgG Ab [Presence] in DBSHIV 1+​2 IgG Ab [Presence] in DBSHIV 1+​2 Ab.IgG: PrThr: Pt: Bld.dot: Ord: C    
                 54087-2   Toxoplasma gondii IgG Ab [Presence] in DBSToxoplasma gondii IgG Ab [Presence] in DBSToxoplasma gondii Ab.IgG: PrThr: Pt: Bld.dot: Ord: C    
                 54088-0   Toxoplasma gondii IgM Ab [Presence] in DBSToxoplasma gondii IgM Ab [Presence] in DBSToxoplasma gondii Ab.IgM: PrThr: Pt: Bld.dot: Ord: C    
            57087-9   Biotinidase newborn screening panelBiotinidase newborn screening panelBiotinidase newborn screening panel: -: Pt: Bld.dot: -: C    
                 46761-3   Biotinidase deficiency newborn screen interpretationBiotinidase deficiency newborn screen interpretationBiotinidase deficiency: Imp: Pt: Bld.dot: Nom: R 1..1   
                 57699-1   Biotinidase deficiency newborn screening comment-discussionBiotinidase deficiency newborn screening comment-discussionBiotinidase deficiency newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 38478-4   Biotinidase [Presence] in DBSBiotinidase [Presence] in DBSBiotinidase: PrThr: Pt: Bld.dot: Ord: C    
                 75217-0   Biotinidase [Enzymatic activity/​volume] in DBSBiotinidase [Enzymatic activity/​volume] in DBSBiotinidase: CCnc: Pt: Bld.dot: Qn: C   nmoL/mL/min 
            58091-0   Glucose-6-Phosphate dehydrogenase newborn screen panelGlucose-6-Phosphate dehydrogenase newborn screen panelGlucose-6-Phosphate dehydrogenase newborn screen panel: -: Pt: Bld.dot: -: C    
                 58089-4   Glucose-6-Phosphate dehydrogenase newborn screen interpretationGlucose-6-Phosphate dehydrogenase newborn screen interpretationGlucose-6-Phosphate dehydrogenase: Imp: Pt: Bld.dot: Nar: C    
                 58090-2   Glucose-6-Phosphate dehydrogenase newborn screening comment-discussionGlucose-6-Phosphate dehydrogenase newborn screening comment-discussionGlucose-6-Phosphate dehydrogenase newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C    
                 33287-4   Glucose-6-Phosphate dehydrogenase [Presence] in DBSGlucose-6-Phosphate dehydrogenase [Presence] in DBSGlucose-6-Phosphate dehydrogenase: PrThr: Pt: Bld.dot: Ord: C    
            62300-9   Lysosomal storage disorders newborn screening panelLysosomal storage disorders newborn screening panelLysosomal storage disorders newborn screening panel: -: Pt: Bld.dot: -: C    
                 62301-7   Lysosomal storage disorders newborn screen interpretationLysosomal storage disorders newborn screen interpretationLysosomal storage disorders: Imp: Pt: Bld.dot: Nom: C 0..1   
                 62303-3   Lysosomal storage disorders newborn screening comment-discussionLysosomal storage disorders newborn screening comment-discussionLysosomal storage disorders newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..1   
                 62302-5   Lysosomal storage disorders suspected [Identifier] in DBSLysosomal storage disorders suspected [Identifier] in DBSLysosomal storage disorders suspected: Prid: Pt: Bld.dot: Nom: C 0..1   
                 62304-1   Fabry disease newborn screening panelFabry disease newborn screening panelFabry disease newborn screening panel: -: Pt: Bld.dot: -: C    
                      62305-8   Fabry disease newborn screen interpretationFabry disease newborn screen interpretationFabry disease: Imp: Pt: Bld.dot: Nom: R 0..1   
                      62306-6   Fabry disease newborn screening comment-discussionFabry disease newborn screening comment-discussionFabry disease newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..1   
                      55908-8   Alpha galactosidase A [Enzymatic activity/​volume] in DBSAlpha galactosidase A [Enzymatic activity/​volume] in DBSAlpha galactosidase A: CCnc: Pt: Bld.dot: Qn: C 0..1  umol/L/h 
                 62307-4   Krabbe disease newborn screening panelKrabbe disease newborn screening panelKrabbe disease newborn screening panel: -: Pt: Bld.dot: -: C    
                      62308-2   Krabbe disease newborn screen interpretationKrabbe disease newborn screen interpretationKrabbe disease: Imp: Pt: Bld.dot: Nom: R 0..1   
                      62309-0   Krabbe disease newborn screening comment-discussionKrabbe disease newborn screening comment-discussionKrabbe disease newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..1   
                      62310-8   Galactosylceramidase [Enzymatic activity/​volume] in DBSGalactosylceramidase [Enzymatic activity/​volume] in DBSGalactosylceramidase: CCnc: Pt: Bld.dot: Qn: C 0..1  umol/L/h 
                 62311-6   Gaucher disease newborn screening panelGaucher disease newborn screening panelGaucher disease newborn screening panel: -: Pt: Bld.dot: -: C    
                      62312-4   Gaucher disease newborn screen interpretationGaucher disease newborn screen interpretationGaucher disease: Imp: Pt: Bld.dot: Nom: R 0..1   
                      62313-2   Gaucher disease newborn screening comment-discussionGaucher disease newborn screening comment-discussionGaucher disease newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..1   
                      55917-9   Acid beta glucosidase [Enzymatic activity/​volume] in DBSAcid beta glucosidase [Enzymatic activity/​volume] in DBSAcid beta glucosidase: CCnc: Pt: Bld.dot: Qn: C 0..*  umol/L/h 
                 79563-3   Mucopolysaccharidosis type I newborn screening panelMucopolysaccharidosis type I newborn screening panelMucopolysaccharidosis type I newborn screening panel: -: Pt: Bld.dot: -:    
                      55909-6   Alpha-L-iduronidase [Enzymatic activity/​volume] in DBSAlpha-L-iduronidase [Enzymatic activity/​volume] in DBSAlpha-L-iduronidase: CCnc: Pt: Bld.dot: Qn:   umol/h/L 
                      79564-1   Mucopolysaccharidosis type I newborn screen interpretationMucopolysaccharidosis type I newborn screen interpretationMucopolysaccharidosis type I: Imp: Pt: Bld.dot: Nom:    
                      79565-8   Mucopolysaccharidosis type I newborn screening comment-discussionMucopolysaccharidosis type I newborn screening comment-discussionMucopolysaccharidosis type I newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar:    
                 62315-7   Niemann Pick disease A/​B newborn screening panelNiemann Pick disease A/​B newborn screening panelNiemann Pick disease A+​B newborn screening panel: -: Pt: Bld.dot: -: C    
                      62318-1   Niemann Pick disease A/​B newborn screen interpretationNiemann Pick disease A/​B newborn screen interpretationNiemann Pick disease A+​B: Imp: Pt: Bld.dot: Nom: R 0..1   
                      62319-9   Niemann Pick disease A/​B newborn screening comment-discussionNiemann Pick disease A/​B newborn screening comment-discussionNiemann Pick disease A+​B newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..1   
                      62316-5   Acid sphingomyelinase [Enzymatic activity/​volume] in DBSAcid sphingomyelinase [Enzymatic activity/​volume] in DBSAcid sphingomyelinase: CCnc: Pt: Bld.dot: Qn: C 0..1  umol/L/h 
                 63414-7   Pompe disease newborn screening panelPompe disease newborn screening panelPompe disease newborn screening panel: -: Pt: Bld.dot: -: C    
                      63415-4   Pompe disease newborn screen interpretationPompe disease newborn screen interpretationPompe disease: Imp: Pt: Bld.dot: Nom: R 0..*   
                      63416-2   Pompe disease newborn screening comment-discussionPompe disease newborn screening comment-discussionPompe disease newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..*   
                      55827-0   Acid alpha glucosidase [Enzymatic activity/​volume] in DBSAcid alpha glucosidase [Enzymatic activity/​volume] in DBSAcid alpha glucosidase: CCnc: Pt: Bld.dot: Qn: C 0..*  umol/L/h 
            62333-0   Severe combined immunodeficiency (SCID) newborn screening panelSevere combined immunodeficiency (SCID) newborn screening panelSevere combined immunodeficiency (SCID) newborn screening panel: -: Pt: Bld.dot: -: C    
                 62321-5   Severe combined immunodeficiency newborn screen interpretationSevere combined immunodeficiency newborn screen interpretationSevere combined immunodeficiency: Imp: Pt: Bld.dot: Nom: R 1..1   
                 62322-3   Severe combined immunodeficiency newborn screening comment-discussionSevere combined immunodeficiency newborn screening comment-discussionSevere combined immunodeficiency newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..1   
                 62320-7   T-cell receptor excision circle [#/​volume] in DBS by Probe and target amplification methodT-cell receptor excision circle [#/​volume] in DBS by Probe and target amplification methodT-cell receptor excision circle: NCnc: Pt: Bld.dot: Qn: Probe.amp.tar C 0..1  {copies} 
            85267-3   X-linked adrenoleukodystrophy (X-ALD) newborn screening panelX-linked adrenoleukodystrophy (X-ALD) newborn screening panelX-linked adrenoleukodystrophy (X-ALD) newborn screening panel: -: Pt: Bld.dot: -: C 0..1   
                 85269-9   X-linked adrenoleukodystrophy newborn screen interpretationX-linked adrenoleukodystrophy newborn screen interpretationX-linked adrenoleukodystrophy: Imp: Pt: Bld.dot: Nom: C 0..*   
                 85268-1   X-linked adrenoleukodystrophy newborn screening comment-discussionX-linked adrenoleukodystrophy newborn screening comment-discussionX-linked adrenoleukodystrophy newborn screening comment-discussion: Txt: Pt: Bld.dot: Nar: C 0..*   
                 79321-6   Lysophosphatidylcholine(26:0) [Moles/​volume] in DBSLysophosphatidylcholine(26:0) [Moles/​volume] in DBSLysophosphatidylcholine(26:0): SCnc: Pt: Bld.dot: Qn: O 0..1  umol/L 
       73738-7   Newborn screening test results panel - Point of Care    
            54111-0   Newborn hearing screening panelNewborn hearing screening panelNewborn hearing screening panel: -: Pt: ^Patient: -:    
                 57700-7   Hearing loss newborn screening comment/​discussionHearing loss newborn screening comment/​discussionHearing loss newborn screening comment-discussion: Txt: Pt: Ear: Nar:    
                 58232-0   Hearing loss risk indicators [Identifier]Hearing loss risk indicators [Identifier]Hearing loss risk indicators: Prid: Pt: ^Patient: Nom:    
                 54106-0   Newborn hearing screen methodNewborn hearing screen methodNewborn hearing screen method: Type: Pt: Ear: Nom:    
                 73741-1   Newborn hearing screen panel - Left Ear    
                      54108-6   Newborn hearing screen of Ear - leftNewborn hearing screen of Ear - leftNewborn hearing screen: Arb: Pt: Ear.left: Ord:    
                      73740-3   Screening duration of Ear - leftScreening duration of Ear - leftScreening duration: Time: Pt: Ear.left: Qn:   min 
                      73739-5   Newborn hearing screen reason not performed of Ear - leftNewborn hearing screen reason not performed of Ear - leftNewborn hearing screen reason not performed: Find: Pt: Ear.left: Nom:    
                 73744-5   Newborn hearing screen panel - Right Ear C    
                      54109-4   Newborn hearing screen of Ear - rightNewborn hearing screen of Ear - rightNewborn hearing screen: Arb: Pt: Ear.right: Ord: R 1..1   
                      73743-7   Screening duration of Ear - rightScreening duration of Ear - rightScreening duration: Time: Pt: Ear.right: Qn: C 0..1  min 
                      73742-9   Newborn hearing screen reason not performed of Ear - rightNewborn hearing screen reason not performed of Ear - rightNewborn hearing screen reason not performed: Find: Pt: Ear.right: Nom: C 0..*   
            73805-4   CCHD newborn screening panelCCHD newborn screening panelCCHD newborn screening panel: -: Pt: ^Patient: -:    
                 73700-7   CCHD newborn screening interpretationCCHD newborn screening interpretationCCHD newborn screening interpretation: Imp: Pt: ^Patient: Nom:    
                 73696-7   Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductalOxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductalOxygen saturation.preductal-oxygen saturation.postductal: MFrDiff: Pt: Bld.preductal+​Bld.postductal: Qn:  
                 73806-2   Newborn age in hoursNewborn age in hoursNewborn age in hours: Time: Pt: ^Patient: Qn:  
                 73699-1   Number of prior CCHD screens [#] QualitativeNumber of prior CCHD screens [#] QualitativeNumber of prior CCHD screens: Num: Pt: ^Patient: Ord:    
                 73804-7   Oxygen saturation sensor nameOxygen saturation sensor nameOxygen saturation sensor name: ID: Pt: Oxygen saturation device: Nom:    
                 73803-9   Oxygen saturation sensor typeOxygen saturation sensor typeOxygen saturation sensor type: Type: Pt: Oxygen saturation device: Nom:    
                 73802-1   Oxygen saturation sensor wrap nameOxygen saturation sensor wrap nameOxygen saturation sensor wrap name: ID: Pt: Oxygen saturation device: Nom:    
                 73801-3   Oxygen saturation sensor wrap typeOxygen saturation sensor wrap typeOxygen saturation sensor wrap type: Type: Pt: Oxygen saturation device: Nom:    
                 73800-5   Oxygen saturation sensor wrap sizeOxygen saturation sensor wrap sizeOxygen saturation sensor wrap size: Type: Pt: Oxygen saturation device: Nom:    
                 73697-5   CCHD newborn screening protocol used [Type]CCHD newborn screening protocol used [Type]CCHD newborn screening protocol used: Type: Pt: ^Patient: Nar:    
                 73698-3   Reason CCHD oxygen saturation screening not performedReason CCHD oxygen saturation screening not performedReason CCHD oxygen saturation screening not performed: Find: Pt: ^Patient: Nom:    
                 59407-7   Oxygen saturation in Blood Preductal by Pulse oximetryOxygen saturation in Blood Preductal by Pulse oximetryOxygen saturation: MFr: Pt: Bld.preductal: Qn: Pulse oximetry  
                 73799-9   Heart rate Blood Preductal Pulse oximetryHeart rate Blood Preductal Pulse oximetryHeart rate: NRat: Pt: Bld.preductal: Qn: Pulse oximetry   /min 
                 73798-1   Perfusion index Blood Preductal Pulse oximetryPerfusion index Blood Preductal Pulse oximetryPerfusion index: Ratio: Pt: Bld.preductal: Qn: Pulse oximetry  
                 73797-3   Signal quality Blood Preductal Pulse oximetrySignal quality Blood Preductal Pulse oximetrySignal quality: Find: Pt: Bld.preductal: Ord: Pulse oximetry    
                 73796-5   Infant activity during preductal oxygen saturation measurementInfant activity during preductal oxygen saturation measurementInfant activity during preductal oxygen saturation measurement: Find: Pt: ^Patient: Nom:    
                 59418-4   Oxygen saturation in Blood Postductal by Pulse oximetryOxygen saturation in Blood Postductal by Pulse oximetryOxygen saturation: MFr: Pt: Bld.postductal: Qn: Pulse oximetry  
                 73795-7   Heart rate Blood Postductal Pulse oximetryHeart rate Blood Postductal Pulse oximetryHeart rate: NRat: Pt: Bld.postductal: Qn: Pulse oximetry   /min 
                 73794-0   Perfusion index Blood Postductal Pulse oximetryPerfusion index Blood Postductal Pulse oximetryPerfusion index: Ratio: Pt: Bld.postductal: Qn: Pulse oximetry  
                 73793-2   Signal quality Blood Postductal Pulse oximetrySignal quality Blood Postductal Pulse oximetrySignal quality: Find: Pt: Bld.postductal: Ord: Pulse oximetry    
                 73792-4   Infant activity during postductal oxygen saturation measurementInfant activity during postductal oxygen saturation measurementInfant activity during postductal oxygen saturation measurement: Find: Pt: ^Patient: Nom:    
 

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn screening panel  Pt  ^Patient  AHIC
  Long Common Name:  Newborn screening panel American Health Information Community (AHIC)
  Shortname:  NB Screen Pnl Patient AHIC

PART DEFINITION/DESCRIPTION(S)
  Part: 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.
 
 

BASIC ATTRIBUTES
  Class/Type: PANEL.CHEM/Lab
  Panel Type: Panel
  Common Orders Rank: #28
  First Released in Version: 2.26
  Last Updated in Version: 2.40
  Order vs. Obs.: Order
  Status: Active

PARTS

Part Type    Part No.  Part Name   
Component   LP33025-5  Newborn screening panel 
Property   LP6769-6 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7747-1 
Method   LP76307-5  AHIC   [American Health Information Community (AHIC)] 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP21059-8  Panel 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  新生儿筛查组套:  -:  时间点:  ^患者:  -:  AHIC新生儿筛查组套:  -:  时间点:  ^患者:  -:  AHIC新生儿筛查组套:  -:  时间点:  ^患者:  -:  AHIC
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Pasgeborene screening panel:  -:  Moment:  ^Patient:  -:  AHICPasgeborene screening panel:  -:  Moment:  ^Patient:  -:  AHICPasgeborene screening panel:  -:  Moment:  ^Patient:  -:  AHIC
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Dépistage néonatal:  -:  Temps ponctuel:  ^Patient:  -:  AHICDépistage néonatal:  -:  Temps ponctuel:  ^Patient:  -:  AHICDépistage néonatal:  -:  Temps ponctuel:  ^Patient:  -:  AHIC
  French (CANADA)  (From: Regenstrief-generated full translation based on part translation provided by Canada Health Infoway Inc.)
 
  Dépistage néonatal:  -:  Temps ponctuel:  ^Patient:  -:  AHICDépistage néonatal:  -:  Temps ponctuel:  ^Patient:  -:  AHICDépistage néonatal:  -:  Temps ponctuel:  ^Patient:  -:  AHIC
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale, panel:  -:  Pt:  ^Paziente:  -:  AHICScreening neonatale, panel:  -:  Pt:  ^Paziente:  -:  AHICScreening neonatale, panel:  -:  Pt:  ^Paziente:  -:  AHIC
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NB Screen Pnl Patient AHICRecém nascido triagem painel:  -:  Pt:  ^Paciente:  -:  American Health Information Community (AHIC)Recém nascido triagem painel:  -:  Pt:  ^Paciente:  -:  American Health Information Community (AHIC)
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Panel de screening del recien nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  -:  AHICPanel de screening del recien nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  -:  AHICPanel de screening del recien nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  -:  AHIC

RELATED NAMES
  Asympt New born Point in time
  Asymptomatic Pan Random
  Chemistry PANEL.CHEMISTRY Scn
  NB Screen Pnl Panl  
  NBS Pnl  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn screening panel American Health Information Community (AHIC)
  Shortname: NB Screen Pnl Patient AHIC
  Fully Specified Name: Newborn screening panel: -: Pt: ^Patient: -: AHIC
     
  Component Word Count: 3
  ID: 48375
  # of Panel Elements: 345
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



57128-1   Newborn Screening Report summary panelNewborn Screening Report summary panelNewborn Screening Report summary panel: -: Pt: ^Patient: -:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn Screening Report summary panel  Pt  ^Patient 
  Long Common Name:  Newborn Screening Report summary panel
  Shortname:  NBS report summary pnl Patient

TERM DEFINITION/DESCRIPTION(S)
  This panel includes a LOINC code that could carry a summary report as text , or PDF , the overall interpretation of the report to permit easy searching for abnormal , a list of the conditions suspected based on the marker results as codes - to make it easy for receiving systems to find cases requiring follow up.
 
 

QUESTION CARDINALITY
0..1

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: PANEL.CHEM/Lab
  Panel Type: Organizer
  First Released in Version: 2.29
  Last Updated in Version: 2.40
  Order vs. Obs.: Order
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97103-3  Newborn Screening Report summary panel 
Property   LP6769-6 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7747-1 
Fragments for synonyms   LP21059-8  Panel 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP34059-3  Screening 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  新生儿筛查报告摘要组套:  -:  时间点:  ^患者:  -:  新生儿筛查报告摘要组套:  -:  时间点:  ^患者:  -:  新生儿筛查报告摘要组套:  -:  时间点:  ^患者:  -:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Pasgeborene screening rapport samenvattend panel:  -:  Moment:  ^Patient:  -:  Pasgeborene screening rapport samenvattend panel:  -:  Moment:  ^Patient:  -:  Pasgeborene screening rapport samenvattend panel:  -:  Moment:  ^Patient:  -:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Rapport screening néonatal.Panel résumé:  -:  Temps ponctuel:  ^Patient:  -:  Rapport screening néonatal.Panel résumé:  -:  Temps ponctuel:  ^Patient:  -:  Rapport screening néonatal.Panel résumé:  -:  Temps ponctuel:  ^Patient:  -:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale, panel riassuntivo di referto:  -:  Pt:  ^Paziente:  -:  Screening neonatale, panel riassuntivo di referto:  -:  Pt:  ^Paziente:  -:  Screening neonatale, panel riassuntivo di referto:  -:  Pt:  ^Paziente:  -:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NBS report summary pnl PatientResumo de relatório da triagem Neonatal painel:  #N/​A:  Pt:  ^Paciente:  -:  Resumo de relatório da triagem Neonatal painel:  #N/​A:  Pt:  ^Paciente:  -:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый Скрининг Отчёт краткие сведения панель:  -:  ТчкВрм:  ^Пациент:  -:  Новорождённый Скрининг Отчёт краткие сведения панель:  -:  ТчкВрм:  ^Пациент:  -:  Новорождённый Скрининг Отчёт краткие сведения панель:  -:  ТчкВрм:  ^Пациент:  -:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Resumen de Informe del panel de cribado del recién nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  -:  Resumen de Informe del panel de cribado del recién nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  -:  Resumen de Informe del panel de cribado del recién nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  -:  

RELATED NAMES
  Asympt Pan Random
  Asymptomatic PANEL.CHEMISTRY Rpt summ
  Chemistry Panl Scn
  NBS report summary pnl Pnl  
  New born Point in time  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn Screening Report summary panel
  Shortname: NBS report summary pnl Patient
  Fully Specified Name: Newborn Screening Report summary panel: -: Pt: ^Patient: -:
     
  Component Word Count: 5
  ID: 51760
  Status (Raw): ACTIVE


57721-3   Reason for lab test in Dried blood spotReason for lab test in Dried blood spotReason for lab test: Type: Pt: Bld.dot: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Reason for lab test  Type  Pt  Bld.dot  Nom 
  Long Common Name:  Reason for lab test in Dried blood spot
  Shortname:  Reason for lab test DBS

TERM DEFINITION/DESCRIPTION(S)
  Definitions of answer codes for reason for newborn screen lab test in dried blood spot:

Initial Screen: This answer code is used for the first screen performed on an infant after birth. When the first specimen obtained is of unacceptable quality and cannot be used, a replacement specimen is still considered the initial screen. When an initial screen is performed before 24 hrs because of a planned transfusion or an extremely ill infant, it is still considered the initial screen even though it may need to be repeated later.

Subsequent screen - required by law: This answer code is used for mandatory second screens as required by law and assumes that the first screen was normal and that the second screen was performed only because it was mandated by law. For example, [give name of state(s)] currently performs a second screen on every infant born in the state at a particular point in time, such as between 1 and 2 weeks. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - required by protocol: This answer code is used for subsequent screens that are performed because of clinical conditions in the newborn that require a repeat screen as specified by a protocol to assure valid test results. Many of these subsequent screens have abnormal or out-of-range results on the initial screen that can be explained by the clinical condition of the infant. Typical examples include premature infants, infants who receive blood product transfusions, and infants who are receiving intravenous alimentation. This category should not include abnormal tests that should be considered presumptive positives (which would require a diagnostic evaluation rather than a repeat screen by protocol). The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.


Subsequent screen - for clarification of initial results (not by law or protocol): When the results of the initial screen are abnormal or out of range, many states perform an "immediate" repeat screen to confirm the results before considering the test a presumptive positive that will require a diagnostic evaluation. Many of these results may be considered or reported as equivocal or borderline until a clear abnormality is confirmed on the subsequent screen. This category does not include abnormal or borderline results for which there is a clear clinical explanation, such as prematurity, for which there is a clear protocol for obtaining a second screen. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - reason unknown: The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed. States should use this answer code if they are unable to identify the specific reason for a subsequent screen, but they are able to separate initial screens from subsequent screens. The reason for the second screen might be any of the above. A repeat initial screen because the first specimen was of unacceptable quality should not be considered a subsequent screen, but some states may use this code if they are unable to track that the reason for a second specimen was unacceptable quality of the first screen.

No sample collected due to parental refusal: This answer code is used to document parental refusal of newborn screening so that a report can be generated which will contain no test results because no specimen was submitted. This will enable complete matching of newborn screening results to all infants born even if no laboratory testing was performed.
 
 

ANSWER CARDINALITY
1..1

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MISC/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.36
  Order vs. Obs.: Observation
  Status: Active

NORMATIVE ANSWER LIST    (LL831-9)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Answer ID    
  1       Initial screen       LA12421-6  
  2       Subsequent screen - required by law       LA12425-7  
  3       Subsequent screen - required by protocol       LA12426-5  
  4       Subsequent screen - for clarification of initial results (not by law or protocol)       LA12427-3  
  5       Subsequent screen - reason unknown       LA16473-3  
  6       No sample collected due to parental refusal       LA14132-7  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97571-1  Reason for lab test 
Property   LP6886-8  Type 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7750-5  Nom 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  关于实验室检验项目的原因:  类型:  时间点:  全血.斑点:  名义型:  关于实验室检验项目的原因:  类型:  时间点:  全血.斑点:  名义型:  关于实验室检验项目的原因:  类型:  时间点:  全血.斑点:  名义型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Reden voor labtest:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  Reden voor labtest:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  Reden voor labtest:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Justification des tests de labo:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Justification des tests de labo:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Justification des tests de labo:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  French (CANADA)  (From: Regenstrief-generated full translation based on part translation provided by Canada Health Infoway Inc.)
 
  Indication de l'examen de laboratoire:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Indication de l'examen de laboratoire:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Indication de l'examen de laboratoire:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Motivo di prova di laboratorio:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  Motivo di prova di laboratorio:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  Motivo di prova di laboratorio:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Reason for lAc test DBSRazão para teste de laboratório:  Tipo:  Pt:  SgPapel:  Nom:  Razão para teste de laboratório:  Tipo:  Pt:  SgPapel:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Причина лабораторный тест:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  Причина лабораторный тест:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  Причина лабораторный тест:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Motivo de la prueba de laboratorio:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Motivo de la prueba de laboratorio:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Motivo de la prueba de laboratorio:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Sebep lab testi için:  Tip:  Zmlı:  Kan.nokta:  Snf:  Sebep lab testi için:  Tip:  Zmlı:  Kan.nokta:  Snf:  Sebep lab testi için:  Tip:  Zmlı:  Kan.nokta:  Snf:  

RELATED NAMES
  Blood MISC WB
  DBS Nominal Whole blood
  Dried blood spot Point in time  
  Filter paper Random  
  FP Typ  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Reason for lab test in Dried blood spot
  Shortname: Reason for lab test DBS
  Fully Specified Name: Reason for lab test: Type: Pt: Bld.dot: Nom:
     
  Component Word Count: 4
  ID: 52394
  Status (Raw): ACTIVE


57718-9   Sample quality of Dried blood spotSample quality of Dried blood spotSample condition: Type: Pt: Bld.dot: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Sample condition  Type  Pt  Bld.dot  Nom 
  Long Common Name:  Sample quality of Dried blood spot
  Shortname:  Sample quality of DBS

ANSWER CARDINALITY
1..1

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: SPEC/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.56
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

PREFERRED ANSWER LIST    (LL832-7)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Answer ID    
  1       Acceptable       LA12432-3  
  2       No sample received       LA12433-1  
  3       Specimen damaged during transport       LA20623-7  
  4       Specimen received in sealed plastic container       LA20624-5  
  5       Specimen quantity insufficient due to incomplete saturation (blood did not soak through paper)
SNOMEDCT ©: 281268007 Insufficient sample (finding)    
  LA20625-2  
  6       Specimen quantity insufficient because blood did not completely fill specimen circles
SNOMEDCT ©: 281268007 Insufficient sample (finding)    
  LA20626-0  
  7       Specimen has uneven saturation       LA20627-8  
  8       Specimen appears scratched or abraded       LA12682-3  
  9       Specimen not dry before mailing       LA12683-1  
  10       Specimen appears supersaturated       LA12684-9  
  11       Specimen appears diluted, discolored or contaminated       LA12685-6  
  12       Specimen exhibits serum rings       LA12686-4  
  13       Specimen appears clotted or layered       LA12435-6  
  14       Specimen not eluting       LA20628-6  
  15       No blood       LA12687-2  
  16       Sample too old       LA12441-4  
  17       Testing of this specimen indicates more than one source of blood is present on the filter paper card       LA20630-2  
  18       Unsuitable for other reasons       LA20629-4  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC
  74874-9   Metabolic disorder therapy monitoring panel - DBSMetabolic disorder therapy monitoring panel - DBSMetabolic disorder therapy monitoring panel: -: Pt: Bld.dot: -:

PARTS

Part Type    Part No.  Part Name   
Component   LP97568-7  Sample condition 
Property   LP6886-8  Type 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7750-5  Nom 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  样本状况:  类型:  时间点:  全血.斑点:  名义型:  样本状况:  类型:  时间点:  全血.斑点:  名义型:  样本状况:  类型:  时间点:  全血.斑点:  名义型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Monsterconditie:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  Monsterconditie:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  Monsterconditie:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Condition échantillon:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Condition échantillon:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Condition échantillon:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Échantillon condition:  Type:  Ponctuel:  Sang buvard:  Résultat textuel:  Échantillon condition:  Type:  Ponctuel:  Sang buvard:  Résultat textuel:  Échantillon condition:  Type:  Ponctuel:  Sang buvard:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Campione, condizione:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  Campione, condizione:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  Campione, condizione:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Sample quality of DBSCondição da amostra:  Tipo:  Pt:  SgPapel:  Nom:  Condição da amostra:  Tipo:  Pt:  SgPapel:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Образец состояние:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  Образец состояние:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  Образец состояние:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Condición de la muestra:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Condición de la muestra:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Condición de la muestra:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Örnek koşulu:  Tip:  Zmlı:  Kan.nokta:  Snf:  Örnek koşulu:  Tip:  Zmlı:  Kan.nokta:  Snf:  Örnek koşulu:  Tip:  Zmlı:  Kan.nokta:  Snf:  

RELATED NAMES
  Blood Nominal Typ
  DBS Point in time WB
  Dried blood spot Random Whole blood
  Filter paper SPEC  
  FP Specimen quality  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Sample quality of Dried blood spot
  Shortname: Sample quality of DBS
  Fully Specified Name: Sample condition: Type: Pt: Bld.dot: Nom:
     
  Component Word Count: 2
  ID: 52391
  Status (Raw): ACTIVE


57130-7   Newborn screening report - overall interpretationNewborn screening report - overall interpretationNewborn screening report - overall interpretation: Imp: Pt: ^Patient: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn screening report - overall interpretation  Imp  Pt  ^Patient  Nom 
  Long Common Name:  Newborn screening report - overall interpretation
  Shortname:  NBS report - overall interp

TERM DEFINITION/DESCRIPTION(S)
  Reports the summary interpretation of the screening test from a short list of specified codes (to be developed by the NBS community)
 
 

CONDITION FOR INCLUSION
If the state reports a summary impression.

ANSWER CARDINALITY
1..*

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.36
  Order vs. Obs.: Observation
  Status: Active

EXAMPLE ANSWER LIST    (LL771-7)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Answer ID    
  1       All screening is in range for the conditions tested       LA12428-1  
  2       Screen is borderline for at least one condition       LA12429-9  
  3       Screen is indeterminate for at least one condition       LA18943-3  
  4       Screen is out of range for at least one condition       LA18944-1  
  5       Out of range requiring further dried blood spot testing for at least one condition       LA12430-7  
  6       Out of range requiring immediate referral       LA25817-0  
  7       Out of range requiring immediate second-tier testing for at least one condition       LA12431-5  
  8       Out of range requiring deferred follow-up for at least one condition       LA18594-4  
  9       Screening not done due to parental refusal       LA14133-5  
  10       One or more tests pending       LA16204-2  
  11       Specimen unsatisfactory for at least one condition       LA16205-9  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97105-8  Newborn screening report - overall interpretation 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  新生儿筛查报告 - 总体解释:  印象:  时间点:  ^患者:  名义型:  新生儿筛查报告 - 总体解释:  印象:  时间点:  ^患者:  名义型:  新生儿筛查报告 - 总体解释:  印象:  时间点:  ^患者:  名义型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Pasgeborene screening rapport - overall interpretatie:  Indruk/​interpretatie van het onderzoek:  Moment:  ^Patient:  Nominaal:  Pasgeborene screening rapport - overall interpretatie:  Indruk/​interpretatie van het onderzoek:  Moment:  ^Patient:  Nominaal:  Pasgeborene screening rapport - overall interpretatie:  Indruk/​interpretatie van het onderzoek:  Moment:  ^Patient:  Nominaal:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Rapport screening néonatal - interprétation générale:  Impression/​interprétation d'étude:  Temps ponctuel:  ^Patient:  Nominal:  Rapport screening néonatal - interprétation générale:  Impression/​interprétation d'étude:  Temps ponctuel:  ^Patient:  Nominal:  Rapport screening néonatal - interprétation générale:  Impression/​interprétation d'étude:  Temps ponctuel:  ^Patient:  Nominal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Compte rendu dépistage néonatal - Interprétation:  Interprétation:  Ponctuel:  Patient:  Résultat textuel:  Compte rendu dépistage néonatal - Interprétation:  Interprétation:  Ponctuel:  Patient:  Résultat textuel:  Compte rendu dépistage néonatal - Interprétation:  Interprétation:  Ponctuel:  Patient:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale, referto - interpretazione generale:  Imp:  Pt:  ^Paziente:  Nom:  Screening neonatale, referto - interpretazione generale:  Imp:  Pt:  ^Paziente:  Nom:  Screening neonatale, referto - interpretazione generale:  Imp:  Pt:  ^Paziente:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NBS report - overall interpRelatório de triagem neonatal - interpretação global:  #N/​A:  Pt:  ^Paciente:  Nom:  Relatório de triagem neonatal - interpretação global:  #N/​A:  Pt:  ^Paciente:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый скрининг отчёт - общая интерпретация:  Впчт:  ТчкВрм:  ^Пациент:  Ном:  Новорождённый скрининг отчёт - общая интерпретация:  Впчт:  ТчкВрм:  ^Пациент:  Ном:  Новорождённый скрининг отчёт - общая интерпретация:  Впчт:  ТчкВрм:  ^Пациент:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Informe del cribado del recién nacido-interpretación general:  Impresión/​interpretación del estudio:  Punto temporal:  ^paciente:  Nom:  Informe del cribado del recién nacido-interpretación general:  Impresión/​interpretación del estudio:  Punto temporal:  ^paciente:  Nom:  Informe del cribado del recién nacido-interpretación general:  Impresión/​interpretación del estudio:  Punto temporal:  ^paciente:  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Yenidoğan tarama raporu - genel yorum:  İzlnm:  Zmlı:  ^Hasta:  Snf:  Yenidoğan tarama raporu - genel yorum:  İzlnm:  Zmlı:  ^Hasta:  Snf:  Yenidoğan tarama raporu - genel yorum:  İzlnm:  Zmlı:  ^Hasta:  Snf:  

RELATED NAMES
  Asympt Interp New born
  Asymptomatic Interpret Nominal
  Chemistry Interpretation Point in time
  Impression Interpt Random
  Impression/interpretation of study Intrp Scn
  Impressions NBS report - overall interp  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn screening report - overall interpretation
  Shortname: NBS report - overall interp
  Fully Specified Name: Newborn screening report - overall interpretation: Imp: Pt: ^Patient: Nom:
     
  Component Word Count: 5
  ID: 51762
  Status (Raw): ACTIVE


57131-5   Newborn conditions with positive markers [Identifier] in DBSNewborn conditions with positive markers [Identifier] in DBSNewborn conditions with positive markers: Prid: Pt: Bld.dot: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn conditions with positive markers  Prid  Pt  Bld.dot  Nom 
  Long Common Name:  Newborn conditions with positive markers [Identifier] in DBS
  Shortname:  NB conditions positive DBS

TERM DEFINITION/DESCRIPTION(S)
  This variable list the conditions that that the markers suggest may be present. It is a coded result intended for easy access by decision support systems to identify the cases that need special attention. The LOINC code will include an answer list that covers all of the conditions screened for by any state. States would only make statements about the conditions they screen for. (This item is still under discussion by the NBS community and subject to change)
 
 

ANSWER CARDINALITY
1..*

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.61
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

PREFERRED ANSWER LIST    (LL835-0)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Code         Answer ID    
  0       None
SNOMEDCT ©: 260413007 None (qualifier value)    
      LA137-2  
  1       Hearing loss       HEAR       LA24366-9  
  2       2-Methyl-3-hydroxybutyric aciduria
SNOMEDCT ©: 791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)    
  2M3HBA       LA12464-6  
  3       2-Methylbutyrylglycinuria
SNOMEDCT ©: 445596006 2-methylbutyrylglycinuria (disorder)    
  2MBG       LA12465-3  
  4       3-Methylcrotonyl-CoA carboxylase deficiency
SNOMEDCT ©: 13144005 Methylcrotonyl-CoA carboxylase deficiency (disorder)    
  3-MCC       LA12466-1  
  5       3-Methylcrotonyl-CoA carboxylase deficiency (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  3-MCC (mat)       LA12467-9  
  6       3-Methylglutaconic aciduria
SNOMEDCT ©: 237950009 3-Methylglutaconic aciduria (disorder)    
  3MGA       LA12468-7  
  7       Pyroglutamic acidemia
SNOMEDCT ©: 39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)    
  5-OXO       LA12469-5  
  8       Argininemia       ARG       LA21161-7  
  9       Argininosuccinic aciduria       ASA       LA21162-5  
  10       Biopterin defect in cofactor biosynthesis
SNOMEDCT ©: 237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)    
  BIOPT-BS       LA12472-9  
  11       Biopterin defect in cofactor regeneration
SNOMEDCT ©: 58256000 Dihydropteridine reductase deficiency (disorder)    
  BIOPT-REG       LA12473-7  
  12       Beta-ketothiolase deficiency
SNOMEDCT ©: 237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)    
  BKT       LA12474-5  
  13       Carnitine acylcarnitine translocase deficiency
SNOMEDCT ©: 238003000 Carnitine acylcarnitine translocase deficiency (disorder)    
  CACT       LA12475-2  
  14       Cobalamin A disease
SNOMEDCT ©: 73843004 Cobalamin A disease (disorder)    
  CBL A       LA12476-0  
  15       Cobalamin B disease
SNOMEDCT ©: 82245003 Cobalamin B disease (disorder)    
  CBL B       LA12477-8  
  16       Cobalamin C disease
SNOMEDCT ©: 74653006 Cobalamin C disease (disorder)    
  CBL C       LA12478-6  
  17       Cobalamin D disease
SNOMEDCT ©: 31220004 Cobalamin D disease (disorder)    
  CBL D       LA12479-4  
  18       Cobalamin E disease
SNOMEDCT ©: 360373000 Adenosylcobalamin and methylcobalamin synthesis defect (disorder)    
  CBL E       LA12480-2  
  19       CBL G type Methylcobalamin deficiency
SNOMEDCT ©: 721187005 Methylcobalamin deficiency type cbl G (disorder)    
  CBL G       LA12481-0  
  20       Citrullinemia, type I
SNOMEDCT ©: 398680004 Citrullinemia (disorder)    
  CIT-I       LA12482-8  
  21       Citrullinemia, type II
SNOMEDCT ©: 716863007 Citrullinemia type II (disorder)    
  CIT-II       LA12483-6  
  22       Carbamoyl-phosphate synthase deficiency
SNOMEDCT ©: 62522004 Deficiency of transcarbamoylase (disorder)    
  CPS       LA12484-4  
  23       Carnitine palmitoyltransferase type I deficiency
SNOMEDCT ©: 238001003 Carnitine palmitoyltransferase I deficiency (disorder)    
  CPT-Ia       LA12485-1  
  24       Carnitine palmitoyltransferase type II deficiency
SNOMEDCT ©: 238002005 Carnitine palmitoyltransferase II deficiency (disorder)    
  CPT-II       LA12486-9  
  25       Carnitine uptake deficiency/carnitine transport defect
SNOMEDCT ©: 21764004 Renal carnitine transport defect (disorder)    
  CUD       LA12487-7  
  26       Carnitine uptake deficiency/carnitine transport defect (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  CUD (mat)       LA12488-5  
  27       2,4-Dienoyl-CoA reductase deficiency
SNOMEDCT ©: 444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)    
  De-Red       LA12489-3  
  28       Dihydrolipoamide dehydrogenase deficiency
SNOMEDCT ©: 29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)    
  E3       LA12490-1  
  29       Ethylmalonic encephalopathy
SNOMEDCT ©: 811000124106 Ethylmalonic encephalopathy (disorder)    
  EMA       LA12491-9  
  30       Formiminoglutamic acidemia
SNOMEDCT ©: 59761008 Glutamate formiminotransferase deficiency (disorder)    
  FIGLU       LA12492-7  
  31       Glutaric acidemia type I
SNOMEDCT ©: 76175005 Glutaric aciduria, type 1 (disorder)    
  GA-1       LA12493-5  
  32       Glutaric acidemia (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  GA-1 (mat)       LA12494-3  
  33       Glutaric acidemia type II
SNOMEDCT ©: 22886006 Glutaric aciduria, type 2 (disorder)    
  GA-2       LA12495-0  
  34       Homocystinuria
SNOMEDCT ©: 11282001 Homocystinuria (disorder)    
  HCY       LA12496-8  
  35       Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SNOMEDCT ©: 30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)    
  HHH       LA12497-6  
  36       Histidinemia
SNOMEDCT ©: 410058007 Histidinemia (disorder)    
  HIS       LA12498-4  
  37       3-Hydroxy-3-methylglutaric aciduria
SNOMEDCT ©: 410059004 Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)    
  HMG       LA12499-2  
  38       Hyperphenylalaninemia (variant, benign)
SNOMEDCT ©: 68528007 Hyperphenylalaninemia (disorder)    
  H-PHE       LA12500-7  
  39       Hyperlysinemia
SNOMEDCT ©: 58558003 Hyperlysinemia (disorder)    
  Hyper LYS       LA12501-5  
  40       Girate atrophy of the retina
SNOMEDCT ©: 314467007 Ornithine oxo-acid aminotransferase deficiency (disorder)    
  Hyper ORN       LA12502-3  
  41       Valinemia
SNOMEDCT ©: 47719001 Hypervalinemia (disorder)    
  Hyper VAL       LA12503-1  
  42       Isobutyrylglycinuria
SNOMEDCT ©: 445571008 Isobutyrylglycinuria (disorder)    
  IBG       LA12504-9  
  43       Isovaleric acidemia
SNOMEDCT ©: 87827003 Isovaleryl-CoA dehydrogenase deficiency (disorder)    
  IVA       LA12505-6  
  44       Primary lactic acidemia
SNOMEDCT ©: 190882007 Lactic acidemia (disorder)    
  LACTIC       LA12506-4  
  45       Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 307127004 Mitochondrial trifunctional protein deficiency (disorder)    
  LCHAD       LA12507-2  
  46       Malonic acidemia
SNOMEDCT ©: 124594007 Deficiency of malonyl-CoA decarboxylase (disorder)    
  MAL       LA12508-0  
  47       Medium-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)    
  MCAD       LA12509-8  
  48       Holoocarboxylase synthase deficiency
SNOMEDCT ©: 360369003 Holocarboxylase synthase deficiency (disorder)    
  MCD       LA12510-6  
  49       Medium-chain ketoacyl-CoA thiolase deficiency
SNOMEDCT ©: 124265004 Deficiency of acetyl-CoA acyltransferase (disorder)    
  MCKAT       LA12511-4  
  50       Hypermethioninemia
SNOMEDCT ©: 43123004 Hypermethioninemia (disorder)    
  MET       LA12512-2  
  51       Maple syrup urine disease       MSUD       LA21168-2  
  52       Methylene tetrahydrofolate reductase deficiency
SNOMEDCT ©: 41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)    
  MTHFR       LA12514-8  
  53       Methylmalonic acidemia
SNOMEDCT ©: 124680001 Deficiency of methylmalonyl-CoA mutase (disorder)    
  MUT       LA12515-5  
  54       Nonketotic hyperglycinemia (glycine encephalopathy)
SNOMEDCT ©: 237939006 Non-ketotic hyperglycinemia (disorder)    
  NKHG       LA12516-3  
  55       Hydroxyprolinemia
SNOMEDCT ©: 25739007 Hyperhydroxyprolinemia (disorder)    
  OH PRO       LA12517-1  
  56       Ornithine transcarbamylase deficiency
SNOMEDCT ©: 80908008 Ornithine carbamoyltransferase deficiency (disorder)    
  OTC       LA12518-9  
  57       Pyruvate carboxylase deficiency
SNOMEDCT ©: 87694001 Pyruvate carboxylase deficiency (disorder)    
  PC       LA12519-7  
  58       Classic phenylketonuria
SNOMEDCT ©: 7573000 Classical phenylketonuria (disorder)    
  PKU       LA12520-5  
  59       Hyperprolinemia type I
SNOMEDCT ©: 61071003 Proline dehydrogenase deficiency (disorder)    
  PRO I       LA12521-3  
  60       Hyperprolinemia type II
SNOMEDCT ©: 717181004 Hyperprolinemia type 2 (disorder)    
  PRO II       LA12522-1  
  61       Propionic acidemia
SNOMEDCT ©: 69080001 Propionic acidemia (disorder)    
  PROP       LA12523-9  
  62       Short-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)    
  SCAD       LA12524-7  
  63       Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 237998000 Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (disorder)    
  SCHAD       LA12525-4  
  64       Succinyl-CoA ligase deficiency
SNOMEDCT ©: 445275003 Deficiency of succinate-coenzyme A ligase (disorder)    
  SUCLA2       LA12526-2  
  65       Trifunctional protein deficiency
SNOMEDCT ©: 237999008 Mitochondrial trifunctional protein deficiency (disorder)    
  TFP       LA12527-0  
  66       Tyrosinemia, type I
SNOMEDCT ©: 410056006 Tyrosinemia type I (disorder)    
  TYR-I       LA12528-8  
  67       Tyrosinemia, type II
SNOMEDCT ©: 4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)    
  TYR-II       LA12529-6  
  68       Tyrosinemia, type III
SNOMEDCT ©: 415764005 Tyrosinemia type III (disorder)    
  TYR-III       LA12530-4  
  69       Very long-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 237997005 Very long chain acyl-CoA dehydrogenase deficiency (disorder)    
  VLCAD       LA12531-2  
  70       Biotinidase deficiency
SNOMEDCT ©: 8808004 Biotinidase deficiency (disorder)    
  BIO       LA12532-0  
  71       Congenital adrenal hyperplasia
SNOMEDCT ©: 237751000 Congenital adrenal hyperplasia (disorder)    
  CAH       LA12533-8  
  72       Cystic fibrosis
SNOMEDCT ©: 190905008 Cystic fibrosis (disorder)    
  CF       LA22202-8  
  73       Primary congenital hypothyroidism
SNOMEDCT ©: 190268003 Congenital hypothyroidism (disorder)    
  CH       LA12538-7  
  74       Secondary congenital hypothyroidism
SNOMEDCT ©: 82598004 Secondary hypothyroidism (disorder)    
  CH2       LA12539-5  
  75       Glucose-6-phosphate dehydrogenase deficiency
SNOMEDCT ©: 124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder)    
  G6PD       LA12540-3  
  76       Galactoepimerase deficiency
SNOMEDCT ©: 8849004 Uridine diphosphate (UDP) glucose-4-epimerase deficiency (disorder)    
  GALE       LA12541-1  
  77       Galactokinase deficiency
SNOMEDCT ©: 124302001 Deficiency of galactokinase (disorder)    
  GALT       LA12542-9  
  78       Classical galactosemia           LA21165-8  
  79       Hb C-carrier
SNOMEDCT ©: 76050008 Hemoglobin C trait (disorder)    
      LA12602-1  
  80       Hb D-carrier
SNOMEDCT ©: 7391009 Hemoglobin D trait (disorder)    
      LA12603-9  
  81       Hb E-carrier
SNOMEDCT ©: 46248003 Hemoglobin E trait (disorder)    
      LA12604-7  
  82       Hb O-Arab carrier           LA12605-4  
  83       Hb S (sickle)-carrier
SNOMEDCT ©: 16402000 Sickle cell trait (disorder)    
      LA12606-2  
  84       Hb C-disease
SNOMEDCT ©: 51053007 Hemoglobin C disease (disorder)    
      LA12607-0  
  85       Hb C beta-thalassemia
SNOMEDCT ©: 119691000119106 Hemoglobin C/beta thalassemia disease (disorder)    
      LA12608-8  
  86       Hb D-disease           LA12609-6  
  87       Hb D beta-thalassemia
SNOMEDCT ©: 119701000119106 Hemoglobin D/beta thalassemia disease (disorder)    
      LA12610-4  
  88       Hb beta zero-thalassemia
SNOMEDCT ©: 86715000 beta^0^ Thalassemia (disorder)    
      LA12611-2  
  89       Hb E-disease
SNOMEDCT ©: 25065001 Hemoglobin E disease (disorder)    
      LA12612-0  
  90       Hb E beta-thalassemia
SNOMEDCT ©: 234392002 Hemoglobin E/beta thalassemia disease (disorder)    
      LA12613-8  
  91       Hb SS-disease (sickle cell anemia)
SNOMEDCT ©: 127040003 Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)    
      LA12614-6  
  92       Hb S beta-thalassemia
SNOMEDCT ©: 127041004 Sickle cell-beta-thalassemia (disorder)    
      LA12615-3  
  93       Hb SC-disease
SNOMEDCT ©: 35434009 Sickle cell-hemoglobin C disease (disorder)    
      LA12616-1  
  94       Hb SD-disease
SNOMEDCT ©: 25472008 Sickle cell-hemoglobin D disease (disorder)    
      LA12617-9  
  95       Hb SE-disease
SNOMEDCT ©: 47024008 Sickle cell-hemoglobin E disease (disorder)    
      LA12618-7  
  96       Hb S O-Arab disease
SNOMEDCT ©: 127048005 Sickle cell-Hemoglobin O Arab disease (disorder)    
      LA12619-5  
  97       Hb S plus Hb other than A,C,D,E,O-Arab disease
SNOMEDCT ©: 23269001 Double heterozygous sickling disorder    
      LA12620-3  
  98       Hb disease other than A, C, D, E, H,O-Arab, S
SNOMEDCT ©: 80141007 Hemoglobinopathy (disorder)    
      LA12621-1  
  99       Hb carrier other than C, D, E, S ,O-Arab           LA12622-9  
  100       Congenital HIV
SNOMEDCT ©: 52079000 Human immunodeficiency virus infection (disorder)    
  HIV       LA12565-0  
  101       Severe combined immunodeficiency
SNOMEDCT ©: 31323000 Severe combined immunodeficiency disease (disorder)
Description: Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.
  SCID       LA12566-8  
  102       Thyroid-binding globulin deficiency
SNOMEDCT ©: 237544006 Thyroid-binding globulin deficiency (disorder)    
  TBG       LA12567-6  
  103       Congenital toxoplasmosis
SNOMEDCT ©: 73893000 Congenital toxoplasmosis (disorder)    
  TOXO       LA12568-4  
  104       CIT-I or CIT-II or ASA           LA12569-2  
  105       HCY or MET or CBL C           LA12570-0  
  106       PKU or BIPT-BS or BIOPT-REG or H-PHE           LA12571-8  
  107       TYR-1 or TYR-II or TYR-III           LA12572-6  
  108       CPT-II or CACT           LA12573-4  
  109       LCHAD or TFP           LA12574-2  
  110       MCAD or SCAD or GA-2(MADD)           LA12575-9  
  111       SCAD or EMA or IBG or GA-2 (MADD)           LA12576-7  
  112       2M3HBA or BKT-2           LA12577-5  
  113       IVA or 2MBG or GA-2 or EMA           LA12578-3  
  114       PROP or CBL A or CBL B or MUT or CBL C or MCD           LA12579-1  
  115       3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO           LA12915-7  
  116       CUD or CUD (mat) or CPT-Ia           LA12916-5  
  117       GA-1 or GA-2           LA12917-3  
  118       Fabry disease
SNOMEDCT ©: 16652001 Fabry's disease (disorder)
Description: Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
  GLA       LA14036-0  
  119       Pompe disease
SNOMEDCT ©: 274864009 Glycogen storage disease, type II (disorder)
Description: Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
  GAA       LA14037-8  
  120       Krabbe disease
SNOMEDCT ©: 192782005 Galactosylceramide beta-galactosidase deficiency (disorder)
Description: Krabbe disease is an inherited disorder that affects the nervous system.  This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance.
  GALC       LA14038-6  
  121       Gaucher disease
SNOMEDCT ©: 190794006 Glucosylceramide beta-glucosidase deficiency (disorder)
Description: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance.
  GBA       LA14039-4  
  122       Niemann Pick disease A/B
SNOMEDCT ©: 58459009 Sphingomyelin/cholesterol lipidosis (disorder)
Description: Niemann-Pick disease is an inherited disorder in which the body in unable to process fats and cholesterol properly.  People with this condition have some combination of the following features: failure to thrive, an enlarged liver and spleen, neurological problems, frequent lung infections, an increased risk of abnormal blood clots, developmental delay, seizures, and poor muscle tone.  Mutations in the SMPD1 gene causes Niemann-Pick disease; it has an autosomal recessive pattern of inheritance.
  ASM       LA14040-2  
  123       Hb H-disease
SNOMEDCT ©: 48553001 Hemoglobin H disease (disorder)    
      LA16007-9  
  124       Hemoglobinopathies
SNOMEDCT ©: 80141007 Hemoglobinopathy (disorder)    
      LA16207-5  
  125       Critical congenital heart disease
Description: Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
  CCHD       LA20349-9  
  126       X-linked adrenoleukodystrophy
SNOMEDCT ©: 65389002 Adrenoleukodystrophy (disorder)    
  X-ALD       LA25796-6  
  127       Mucopolysaccharidosis type I
SNOMEDCT ©: 75610003 Mucopolysaccharidosis type I (disorder)    
  MPS-I       LA25797-4  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97106-6  Newborn conditions with positive markers 
Property   LP6850-4  Prid   [Presence or Identity] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP21065-5  Positive 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  带有阳性标志的新生儿健康状况:  存在与否或特征标识:  时间点:  全血.斑点:  名义型:  带有阳性标志的新生儿健康状况:  存在与否或特征标识:  时间点:  全血.斑点:  名义型:  带有阳性标志的新生儿健康状况:  存在与否或特征标识:  时间点:  全血.斑点:  名义型:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Conditions néonatales avec marqueurs positifs:  Présence ou identité:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Conditions néonatales avec marqueurs positifs:  Présence ou identité:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Conditions néonatales avec marqueurs positifs:  Présence ou identité:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Conditions néonatales avec marqueurs présents:  Identification:  Ponctuel:  Sang buvard:  Résultat textuel:  Conditions néonatales avec marqueurs présents:  Identification:  Ponctuel:  Sang buvard:  Résultat textuel:  Conditions néonatales avec marqueurs présents:  Identification:  Ponctuel:  Sang buvard:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Neonato, condizioni con marcatori positivi:  Prid:  Pt:  Sangue.su carta da filtro:  Nom:  Neonato, condizioni con marcatori positivi:  Prid:  Pt:  Sangue.su carta da filtro:  Nom:  Neonato, condizioni con marcatori positivi:  Prid:  Pt:  Sangue.su carta da filtro:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NB conditions positive DBSCondições de recém-nascidos com marcadores positivos:  Ident:  Pt:  SgPapel:  Nom:  Condições de recém-nascidos com marcadores positivos:  Ident:  Pt:  SgPapel:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый состояния с позитивными маркерами:  ПрИд:  ТчкВрм:  Кр.Сух.капл:  Ном:  Новорождённый состояния с позитивными маркерами:  ПрИд:  ТчкВрм:  Кр.Сух.капл:  Ном:  Новорождённый состояния с позитивными маркерами:  ПрИд:  ТчкВрм:  Кр.Сух.капл:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Estado del recién nacido con marcadores positivos:  Presencia o identidad:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Estado del recién nacido con marcadores positivos:  Presencia o identidad:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Estado del recién nacido con marcadores positivos:  Presencia o identidad:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Pozitif belirteçli yenidoğan durumları:  MevcKimlik:  Zmlı:  Kan.nokta:  Snf:  Pozitif belirteçli yenidoğan durumları:  MevcKimlik:  Zmlı:  Kan.nokta:  Snf:  Pozitif belirteçli yenidoğan durumları:  MevcKimlik:  Zmlı:  Kan.nokta:  Snf:  

RELATED NAMES
  Blood Identity or presence Random
  Chemistry NB conditions positive WB
  DBS New born Whole blood
  Dried blood spot Nominal  
  Filter paper Point in time  
  FP Pos  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn conditions with positive markers [Identifier] in DBS
  Shortname: NB conditions positive DBS
  Fully Specified Name: Newborn conditions with positive markers: Prid: Pt: Bld.dot: Nom:
     
  Component Word Count: 5
  ID: 51763
  Status (Raw): ACTIVE


57720-5   Newborn conditions with equivocal markers [Identifier] in DBSNewborn conditions with equivocal markers [Identifier] in DBSNewborn conditions with equivocal markers: Prid: Pt: Bld.dot: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn conditions with equivocal markers  Prid  Pt  Bld.dot  Nom 
  Long Common Name:  Newborn conditions with equivocal markers [Identifier] in DBS
  Shortname:  NB conditions with equivocal markers

ANSWER CARDINALITY
1..*

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.61
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

PREFERRED ANSWER LIST    (LL835-0)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Code         Answer ID    
  0       None
SNOMEDCT ©: 260413007 None (qualifier value)    
      LA137-2  
  1       Hearing loss       HEAR       LA24366-9  
  2       2-Methyl-3-hydroxybutyric aciduria
SNOMEDCT ©: 791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)    
  2M3HBA       LA12464-6  
  3       2-Methylbutyrylglycinuria
SNOMEDCT ©: 445596006 2-methylbutyrylglycinuria (disorder)    
  2MBG       LA12465-3  
  4       3-Methylcrotonyl-CoA carboxylase deficiency
SNOMEDCT ©: 13144005 Methylcrotonyl-CoA carboxylase deficiency (disorder)    
  3-MCC       LA12466-1  
  5       3-Methylcrotonyl-CoA carboxylase deficiency (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  3-MCC (mat)       LA12467-9  
  6       3-Methylglutaconic aciduria
SNOMEDCT ©: 237950009 3-Methylglutaconic aciduria (disorder)    
  3MGA       LA12468-7  
  7       Pyroglutamic acidemia
SNOMEDCT ©: 39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)    
  5-OXO       LA12469-5  
  8       Argininemia       ARG       LA21161-7  
  9       Argininosuccinic aciduria       ASA       LA21162-5  
  10       Biopterin defect in cofactor biosynthesis
SNOMEDCT ©: 237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)    
  BIOPT-BS       LA12472-9  
  11       Biopterin defect in cofactor regeneration
SNOMEDCT ©: 58256000 Dihydropteridine reductase deficiency (disorder)    
  BIOPT-REG       LA12473-7  
  12       Beta-ketothiolase deficiency
SNOMEDCT ©: 237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)    
  BKT       LA12474-5  
  13       Carnitine acylcarnitine translocase deficiency
SNOMEDCT ©: 238003000 Carnitine acylcarnitine translocase deficiency (disorder)    
  CACT       LA12475-2  
  14       Cobalamin A disease
SNOMEDCT ©: 73843004 Cobalamin A disease (disorder)    
  CBL A       LA12476-0  
  15       Cobalamin B disease
SNOMEDCT ©: 82245003 Cobalamin B disease (disorder)    
  CBL B       LA12477-8  
  16       Cobalamin C disease
SNOMEDCT ©: 74653006 Cobalamin C disease (disorder)    
  CBL C       LA12478-6  
  17       Cobalamin D disease
SNOMEDCT ©: 31220004 Cobalamin D disease (disorder)    
  CBL D       LA12479-4  
  18       Cobalamin E disease
SNOMEDCT ©: 360373000 Adenosylcobalamin and methylcobalamin synthesis defect (disorder)    
  CBL E       LA12480-2  
  19       CBL G type Methylcobalamin deficiency
SNOMEDCT ©: 721187005 Methylcobalamin deficiency type cbl G (disorder)    
  CBL G       LA12481-0  
  20       Citrullinemia, type I
SNOMEDCT ©: 398680004 Citrullinemia (disorder)    
  CIT-I       LA12482-8  
  21       Citrullinemia, type II
SNOMEDCT ©: 716863007 Citrullinemia type II (disorder)    
  CIT-II       LA12483-6  
  22       Carbamoyl-phosphate synthase deficiency
SNOMEDCT ©: 62522004 Deficiency of transcarbamoylase (disorder)    
  CPS       LA12484-4  
  23       Carnitine palmitoyltransferase type I deficiency
SNOMEDCT ©: 238001003 Carnitine palmitoyltransferase I deficiency (disorder)    
  CPT-Ia       LA12485-1  
  24       Carnitine palmitoyltransferase type II deficiency
SNOMEDCT ©: 238002005 Carnitine palmitoyltransferase II deficiency (disorder)    
  CPT-II       LA12486-9  
  25       Carnitine uptake deficiency/carnitine transport defect
SNOMEDCT ©: 21764004 Renal carnitine transport defect (disorder)    
  CUD       LA12487-7  
  26       Carnitine uptake deficiency/carnitine transport defect (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  CUD (mat)       LA12488-5  
  27       2,4-Dienoyl-CoA reductase deficiency
SNOMEDCT ©: 444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)    
  De-Red       LA12489-3  
  28       Dihydrolipoamide dehydrogenase deficiency
SNOMEDCT ©: 29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)    
  E3       LA12490-1  
  29       Ethylmalonic encephalopathy
SNOMEDCT ©: 811000124106 Ethylmalonic encephalopathy (disorder)    
  EMA       LA12491-9  
  30       Formiminoglutamic acidemia
SNOMEDCT ©: 59761008 Glutamate formiminotransferase deficiency (disorder)    
  FIGLU       LA12492-7  
  31       Glutaric acidemia type I
SNOMEDCT ©: 76175005 Glutaric aciduria, type 1 (disorder)    
  GA-1       LA12493-5  
  32       Glutaric acidemia (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  GA-1 (mat)       LA12494-3  
  33       Glutaric acidemia type II
SNOMEDCT ©: 22886006 Glutaric aciduria, type 2 (disorder)    
  GA-2       LA12495-0  
  34       Homocystinuria
SNOMEDCT ©: 11282001 Homocystinuria (disorder)    
  HCY       LA12496-8  
  35       Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SNOMEDCT ©: 30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)    
  HHH       LA12497-6  
  36       Histidinemia
SNOMEDCT ©: 410058007 Histidinemia (disorder)    
  HIS       LA12498-4  
  37       3-Hydroxy-3-methylglutaric aciduria
SNOMEDCT ©: 410059004 Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)    
  HMG       LA12499-2  
  38       Hyperphenylalaninemia (variant, benign)
SNOMEDCT ©: 68528007 Hyperphenylalaninemia (disorder)    
  H-PHE       LA12500-7  
  39       Hyperlysinemia
SNOMEDCT ©: 58558003 Hyperlysinemia (disorder)    
  Hyper LYS       LA12501-5  
  40       Girate atrophy of the retina
SNOMEDCT ©: 314467007 Ornithine oxo-acid aminotransferase deficiency (disorder)    
  Hyper ORN       LA12502-3  
  41       Valinemia
SNOMEDCT ©: 47719001 Hypervalinemia (disorder)    
  Hyper VAL       LA12503-1  
  42       Isobutyrylglycinuria
SNOMEDCT ©: 445571008 Isobutyrylglycinuria (disorder)    
  IBG       LA12504-9  
  43       Isovaleric acidemia
SNOMEDCT ©: 87827003 Isovaleryl-CoA dehydrogenase deficiency (disorder)    
  IVA       LA12505-6  
  44       Primary lactic acidemia
SNOMEDCT ©: 190882007 Lactic acidemia (disorder)    
  LACTIC       LA12506-4  
  45       Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 307127004 Mitochondrial trifunctional protein deficiency (disorder)    
  LCHAD       LA12507-2  
  46       Malonic acidemia
SNOMEDCT ©: 124594007 Deficiency of malonyl-CoA decarboxylase (disorder)    
  MAL       LA12508-0  
  47       Medium-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)    
  MCAD       LA12509-8  
  48       Holoocarboxylase synthase deficiency
SNOMEDCT ©: 360369003 Holocarboxylase synthase deficiency (disorder)    
  MCD       LA12510-6  
  49       Medium-chain ketoacyl-CoA thiolase deficiency
SNOMEDCT ©: 124265004 Deficiency of acetyl-CoA acyltransferase (disorder)    
  MCKAT       LA12511-4  
  50       Hypermethioninemia
SNOMEDCT ©: 43123004 Hypermethioninemia (disorder)    
  MET       LA12512-2  
  51       Maple syrup urine disease       MSUD       LA21168-2  
  52       Methylene tetrahydrofolate reductase deficiency
SNOMEDCT ©: 41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)    
  MTHFR       LA12514-8  
  53       Methylmalonic acidemia
SNOMEDCT ©: 124680001 Deficiency of methylmalonyl-CoA mutase (disorder)    
  MUT       LA12515-5  
  54       Nonketotic hyperglycinemia (glycine encephalopathy)
SNOMEDCT ©: 237939006 Non-ketotic hyperglycinemia (disorder)    
  NKHG       LA12516-3  
  55       Hydroxyprolinemia
SNOMEDCT ©: 25739007 Hyperhydroxyprolinemia (disorder)    
  OH PRO       LA12517-1  
  56       Ornithine transcarbamylase deficiency
SNOMEDCT ©: 80908008 Ornithine carbamoyltransferase deficiency (disorder)    
  OTC       LA12518-9  
  57       Pyruvate carboxylase deficiency
SNOMEDCT ©: 87694001 Pyruvate carboxylase deficiency (disorder)    
  PC       LA12519-7  
  58       Classic phenylketonuria
SNOMEDCT ©: 7573000 Classical phenylketonuria (disorder)    
  PKU       LA12520-5  
  59       Hyperprolinemia type I
SNOMEDCT ©: 61071003 Proline dehydrogenase deficiency (disorder)    
  PRO I       LA12521-3  
  60       Hyperprolinemia type II
SNOMEDCT ©: 717181004 Hyperprolinemia type 2 (disorder)    
  PRO II       LA12522-1  
  61       Propionic acidemia
SNOMEDCT ©: 69080001 Propionic acidemia (disorder)    
  PROP       LA12523-9  
  62       Short-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)    
  SCAD       LA12524-7  
  63       Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 237998000 Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (disorder)    
  SCHAD       LA12525-4  
  64       Succinyl-CoA ligase deficiency
SNOMEDCT ©: 445275003 Deficiency of succinate-coenzyme A ligase (disorder)    
  SUCLA2       LA12526-2  
  65       Trifunctional protein deficiency
SNOMEDCT ©: 237999008 Mitochondrial trifunctional protein deficiency (disorder)    
  TFP       LA12527-0  
  66       Tyrosinemia, type I
SNOMEDCT ©: 410056006 Tyrosinemia type I (disorder)    
  TYR-I       LA12528-8  
  67       Tyrosinemia, type II
SNOMEDCT ©: 4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)    
  TYR-II       LA12529-6  
  68       Tyrosinemia, type III
SNOMEDCT ©: 415764005 Tyrosinemia type III (disorder)    
  TYR-III       LA12530-4  
  69       Very long-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 237997005 Very long chain acyl-CoA dehydrogenase deficiency (disorder)    
  VLCAD       LA12531-2  
  70       Biotinidase deficiency
SNOMEDCT ©: 8808004 Biotinidase deficiency (disorder)    
  BIO       LA12532-0  
  71       Congenital adrenal hyperplasia
SNOMEDCT ©: 237751000 Congenital adrenal hyperplasia (disorder)    
  CAH       LA12533-8  
  72       Cystic fibrosis
SNOMEDCT ©: 190905008 Cystic fibrosis (disorder)    
  CF       LA22202-8  
  73       Primary congenital hypothyroidism
SNOMEDCT ©: 190268003 Congenital hypothyroidism (disorder)    
  CH       LA12538-7  
  74       Secondary congenital hypothyroidism
SNOMEDCT ©: 82598004 Secondary hypothyroidism (disorder)    
  CH2       LA12539-5  
  75       Glucose-6-phosphate dehydrogenase deficiency
SNOMEDCT ©: 124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder)    
  G6PD       LA12540-3  
  76       Galactoepimerase deficiency
SNOMEDCT ©: 8849004 Uridine diphosphate (UDP) glucose-4-epimerase deficiency (disorder)    
  GALE       LA12541-1  
  77       Galactokinase deficiency
SNOMEDCT ©: 124302001 Deficiency of galactokinase (disorder)    
  GALT       LA12542-9  
  78       Classical galactosemia           LA21165-8  
  79       Hb C-carrier
SNOMEDCT ©: 76050008 Hemoglobin C trait (disorder)    
      LA12602-1  
  80       Hb D-carrier
SNOMEDCT ©: 7391009 Hemoglobin D trait (disorder)    
      LA12603-9  
  81       Hb E-carrier
SNOMEDCT ©: 46248003 Hemoglobin E trait (disorder)    
      LA12604-7  
  82       Hb O-Arab carrier           LA12605-4  
  83       Hb S (sickle)-carrier
SNOMEDCT ©: 16402000 Sickle cell trait (disorder)    
      LA12606-2  
  84       Hb C-disease
SNOMEDCT ©: 51053007 Hemoglobin C disease (disorder)    
      LA12607-0  
  85       Hb C beta-thalassemia
SNOMEDCT ©: 119691000119106 Hemoglobin C/beta thalassemia disease (disorder)    
      LA12608-8  
  86       Hb D-disease           LA12609-6  
  87       Hb D beta-thalassemia
SNOMEDCT ©: 119701000119106 Hemoglobin D/beta thalassemia disease (disorder)    
      LA12610-4  
  88       Hb beta zero-thalassemia
SNOMEDCT ©: 86715000 beta^0^ Thalassemia (disorder)    
      LA12611-2  
  89       Hb E-disease
SNOMEDCT ©: 25065001 Hemoglobin E disease (disorder)    
      LA12612-0  
  90       Hb E beta-thalassemia
SNOMEDCT ©: 234392002 Hemoglobin E/beta thalassemia disease (disorder)    
      LA12613-8  
  91       Hb SS-disease (sickle cell anemia)
SNOMEDCT ©: 127040003 Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)    
      LA12614-6  
  92       Hb S beta-thalassemia
SNOMEDCT ©: 127041004 Sickle cell-beta-thalassemia (disorder)    
      LA12615-3  
  93       Hb SC-disease
SNOMEDCT ©: 35434009 Sickle cell-hemoglobin C disease (disorder)    
      LA12616-1  
  94       Hb SD-disease
SNOMEDCT ©: 25472008 Sickle cell-hemoglobin D disease (disorder)    
      LA12617-9  
  95       Hb SE-disease
SNOMEDCT ©: 47024008 Sickle cell-hemoglobin E disease (disorder)    
      LA12618-7  
  96       Hb S O-Arab disease
SNOMEDCT ©: 127048005 Sickle cell-Hemoglobin O Arab disease (disorder)    
      LA12619-5  
  97       Hb S plus Hb other than A,C,D,E,O-Arab disease
SNOMEDCT ©: 23269001 Double heterozygous sickling disorder    
      LA12620-3  
  98       Hb disease other than A, C, D, E, H,O-Arab, S
SNOMEDCT ©: 80141007 Hemoglobinopathy (disorder)    
      LA12621-1  
  99       Hb carrier other than C, D, E, S ,O-Arab           LA12622-9  
  100       Congenital HIV
SNOMEDCT ©: 52079000 Human immunodeficiency virus infection (disorder)    
  HIV       LA12565-0  
  101       Severe combined immunodeficiency
SNOMEDCT ©: 31323000 Severe combined immunodeficiency disease (disorder)
Description: Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.
  SCID       LA12566-8  
  102       Thyroid-binding globulin deficiency
SNOMEDCT ©: 237544006 Thyroid-binding globulin deficiency (disorder)    
  TBG       LA12567-6  
  103       Congenital toxoplasmosis
SNOMEDCT ©: 73893000 Congenital toxoplasmosis (disorder)    
  TOXO       LA12568-4  
  104       CIT-I or CIT-II or ASA           LA12569-2  
  105       HCY or MET or CBL C           LA12570-0  
  106       PKU or BIPT-BS or BIOPT-REG or H-PHE           LA12571-8  
  107       TYR-1 or TYR-II or TYR-III           LA12572-6  
  108       CPT-II or CACT           LA12573-4  
  109       LCHAD or TFP           LA12574-2  
  110       MCAD or SCAD or GA-2(MADD)           LA12575-9  
  111       SCAD or EMA or IBG or GA-2 (MADD)           LA12576-7  
  112       2M3HBA or BKT-2           LA12577-5  
  113       IVA or 2MBG or GA-2 or EMA           LA12578-3  
  114       PROP or CBL A or CBL B or MUT or CBL C or MCD           LA12579-1  
  115       3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO           LA12915-7  
  116       CUD or CUD (mat) or CPT-Ia           LA12916-5  
  117       GA-1 or GA-2           LA12917-3  
  118       Fabry disease
SNOMEDCT ©: 16652001 Fabry's disease (disorder)
Description: Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
  GLA       LA14036-0  
  119       Pompe disease
SNOMEDCT ©: 274864009 Glycogen storage disease, type II (disorder)
Description: Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
  GAA       LA14037-8  
  120       Krabbe disease
SNOMEDCT ©: 192782005 Galactosylceramide beta-galactosidase deficiency (disorder)
Description: Krabbe disease is an inherited disorder that affects the nervous system.  This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance.
  GALC       LA14038-6  
  121       Gaucher disease
SNOMEDCT ©: 190794006 Glucosylceramide beta-glucosidase deficiency (disorder)
Description: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance.
  GBA       LA14039-4  
  122       Niemann Pick disease A/B
SNOMEDCT ©: 58459009 Sphingomyelin/cholesterol lipidosis (disorder)
Description: Niemann-Pick disease is an inherited disorder in which the body in unable to process fats and cholesterol properly.  People with this condition have some combination of the following features: failure to thrive, an enlarged liver and spleen, neurological problems, frequent lung infections, an increased risk of abnormal blood clots, developmental delay, seizures, and poor muscle tone.  Mutations in the SMPD1 gene causes Niemann-Pick disease; it has an autosomal recessive pattern of inheritance.
  ASM       LA14040-2  
  123       Hb H-disease
SNOMEDCT ©: 48553001 Hemoglobin H disease (disorder)    
      LA16007-9  
  124       Hemoglobinopathies
SNOMEDCT ©: 80141007 Hemoglobinopathy (disorder)    
      LA16207-5  
  125       Critical congenital heart disease
Description: Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
  CCHD       LA20349-9  
  126       X-linked adrenoleukodystrophy
SNOMEDCT ©: 65389002 Adrenoleukodystrophy (disorder)    
  X-ALD       LA25796-6  
  127       Mucopolysaccharidosis type I
SNOMEDCT ©: 75610003 Mucopolysaccharidosis type I (disorder)    
  MPS-I       LA25797-4  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97570-3  Newborn conditions with equivocal markers 
Property   LP6850-4  Prid   [Presence or Identity] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  带有模糊标志的新生儿健康状况:  存在与否或特征标识:  时间点:  全血.斑点:  名义型:  带有模糊标志的新生儿健康状况:  存在与否或特征标识:  时间点:  全血.斑点:  名义型:  带有模糊标志的新生儿健康状况:  存在与否或特征标识:  时间点:  全血.斑点:  名义型:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Conditions néonatales avec marqueurs équivoques:  Présence ou identité:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Conditions néonatales avec marqueurs équivoques:  Présence ou identité:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Conditions néonatales avec marqueurs équivoques:  Présence ou identité:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Conditions néonatales avec marqueurs équivoques:  Identification:  Ponctuel:  Sang buvard:  Résultat textuel:  Conditions néonatales avec marqueurs équivoques:  Identification:  Ponctuel:  Sang buvard:  Résultat textuel:  Conditions néonatales avec marqueurs équivoques:  Identification:  Ponctuel:  Sang buvard:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Neonato, condizioni con marcatori sospetti:  Prid:  Pt:  Sangue.su carta da filtro:  Nom:  Neonato, condizioni con marcatori sospetti:  Prid:  Pt:  Sangue.su carta da filtro:  Nom:  Neonato, condizioni con marcatori sospetti:  Prid:  Pt:  Sangue.su carta da filtro:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NB conditions with equivocal markersCondições de recém-nascidos com marcadores equívocos:  Ident:  Pt:  SgPapel:  Nom:  Condições de recém-nascidos com marcadores equívocos:  Ident:  Pt:  SgPapel:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый состояние с неопределённые маркеры:  ПрИд:  ТчкВрм:  Кр.Сух.капл:  Ном:  Новорождённый состояние с неопределённые маркеры:  ПрИд:  ТчкВрм:  Кр.Сух.капл:  Ном:  Новорождённый состояние с неопределённые маркеры:  ПрИд:  ТчкВрм:  Кр.Сух.капл:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Estado del recién nacido con marcadores equívocos:  Presencia o identidad:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Estado del recién nacido con marcadores equívocos:  Presencia o identidad:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Estado del recién nacido con marcadores equívocos:  Presencia o identidad:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Kuşkulu belirteçli yenidoğan şartları:  MevcKimlik:  Zmlı:  Kan.nokta:  Snf:  Kuşkulu belirteçli yenidoğan şartları:  MevcKimlik:  Zmlı:  Kan.nokta:  Snf:  Kuşkulu belirteçli yenidoğan şartları:  MevcKimlik:  Zmlı:  Kan.nokta:  Snf:  

RELATED NAMES
  Blood FP Point in time
  Chemistry Identity or presence Random
  DBS NB conditions with equivocal markers WB
  Dried blood spot New born Whole blood
  Filter paper Nominal  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn conditions with equivocal markers [Identifier] in DBS
  Shortname: NB conditions with equivocal markers
  Fully Specified Name: Newborn conditions with equivocal markers: Prid: Pt: Bld.dot: Nom:
     
  Component Word Count: 5
  ID: 52393
  Status (Raw): ACTIVE


57724-7   Newborn screening short narrative summaryNewborn screening short narrative summaryNewborn screening short narrative summary: Txt: Pt: ^Patient: Nar:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn screening short narrative summary  Txt  Pt  ^Patient  Nar 
  Long Common Name:  Newborn screening short narrative summary
  Shortname:  NBS short summary

ANSWER CARDINALITY
0..1

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.40
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97576-0  Newborn screening short narrative summary 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7749-7  Nar 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  新生儿筛查简述摘要:  文本型属性:  时间点:  ^患者:  叙述型:  新生儿筛查简述摘要:  文本型属性:  时间点:  ^患者:  叙述型:  新生儿筛查简述摘要:  文本型属性:  时间点:  ^患者:  叙述型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Pasgeborene screening korte tekstuele samnvatting:  Tekst:  Moment:  ^Patient:  Tekstueel:  Pasgeborene screening korte tekstuele samnvatting:  Tekst:  Moment:  ^Patient:  Tekstueel:  Pasgeborene screening korte tekstuele samnvatting:  Tekst:  Moment:  ^Patient:  Tekstueel:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Screening Nouveau-né. Résumé court:  Texte:  Temps ponctuel:  ^Patient:  Narratif:  Screening Nouveau-né. Résumé court:  Texte:  Temps ponctuel:  ^Patient:  Narratif:  Screening Nouveau-né. Résumé court:  Texte:  Temps ponctuel:  ^Patient:  Narratif:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Dépistage néonatal résumé compte rendu:  Texte:  Ponctuel:  Patient:  Commentaire:  Dépistage néonatal résumé compte rendu:  Texte:  Ponctuel:  Patient:  Commentaire:  Dépistage néonatal résumé compte rendu:  Texte:  Ponctuel:  Patient:  Commentaire:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale, breve resoconto:  Txt:  Pt:  ^Paziente:  Nar:  Screening neonatale, breve resoconto:  Txt:  Pt:  ^Paziente:  Nar:  Screening neonatale, breve resoconto:  Txt:  Pt:  ^Paziente:  Nar:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NBSshort summary PatientTriagem neonatal pequeno sumário narrativo:  #N/​A:  Pt:  ^Paciente:  Nar:  Triagem neonatal pequeno sumário narrativo:  #N/​A:  Pt:  ^Paciente:  Nar:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый скрининг краткий описательный краткие сведения:  Txt:  ТчкВрм:  ^Пациент:  Опис:  Новорождённый скрининг краткий описательный краткие сведения:  Txt:  ТчкВрм:  ^Пациент:  Опис:  Новорождённый скрининг краткий описательный краткие сведения:  Txt:  ТчкВрм:  ^Пациент:  Опис:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Resumen narrativo corto del cribado del recién nacido:  Texto:  Punto temporal:  ^paciente:  Narrativo:  Resumen narrativo corto del cribado del recién nacido:  Texto:  Punto temporal:  ^paciente:  Narrativo:  Resumen narrativo corto del cribado del recién nacido:  Texto:  Punto temporal:  ^paciente:  Narrativo:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Yenidoğan tarama kısa yazılı özet:  Metin:  Zmlı:  ^Hasta:  Öykü:  Yenidoğan tarama kısa yazılı özet:  Metin:  Zmlı:  ^Hasta:  Öykü:  Yenidoğan tarama kısa yazılı özet:  Metin:  Zmlı:  ^Hasta:  Öykü:  

RELATED NAMES
  Asympt NBS short summary Report
  Asymptomatic New born Scn
  Chemistry Point in time Text
  Narrative Random  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn screening short narrative summary
  Shortname: NBS short summary
  Fully Specified Name: Newborn screening short narrative summary: Txt: Pt: ^Patient: Nar:
     
  Component Word Count: 5
  ID: 52397
  Status (Raw): ACTIVE


57129-9   Full newborn screening summary report for display or printingFull newborn screening summary report for display or printingFull newborn screening summary report for display or printing: -: Pt: ^Patient: Doc:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Full newborn screening summary report for display or printing  Pt  ^Patient  Doc 
  Long Common Name:  Full newborn screening summary report for display or printing
  Shortname:  Full NBS summary for display/printing

TERM DEFINITION/DESCRIPTION(S)
  This code indicates that the OBX-5 carries a summary new born screen report as formatted text. Use HL7 type FT or if you want to see as PDF use HL7 encoded data type (ED) and send as binary data in the OBX-5. It is an option entry that provides a convenient way for laboratories to send reports for display and/or printing to clinicians with whatever format they now deliver. If sent as a PDF it could include letter head, water marks etc.
 
 

ANSWER CARDINALITY
0..1

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.38
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97104-1  Full newborn screening summary report for display or printing 
Property   LP6769-6 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP32888-7  Doc 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  适用于显示或打印的全面新生儿筛查摘要报告:  -:  时间点:  ^患者:  文档型:  适用于显示或打印的全面新生儿筛查摘要报告:  -:  时间点:  ^患者:  文档型:  适用于显示或打印的全面新生儿筛查摘要报告:  -:  时间点:  ^患者:  文档型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Volledige pasgeborene screening samenvattend rapport voor weergave of om te printen:  -:  Moment:  ^Patient:  Document:  Volledige pasgeborene screening samenvattend rapport voor weergave of om te printen:  -:  Moment:  ^Patient:  Document:  Volledige pasgeborene screening samenvattend rapport voor weergave of om te printen:  -:  Moment:  ^Patient:  Document:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Synthèse du compte rendu de dépistage néonatal complet pour l'affichage ou l'impression:  -:  Ponctuel:  Patient:  Document:  Synthèse du compte rendu de dépistage néonatal complet pour l'affichage ou l'impression:  -:  Ponctuel:  Patient:  Document:  Synthèse du compte rendu de dépistage néonatal complet pour l'affichage ou l'impression:  -:  Ponctuel:  Patient:  Document:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale completo, referto generale per la visualizzazione o la stampa:  -:  Pt:  ^Paziente:  Doc:  Screening neonatale completo, referto generale per la visualizzazione o la stampa:  -:  Pt:  ^Paziente:  Doc:  Screening neonatale completo, referto generale per la visualizzazione o la stampa:  -:  Pt:  ^Paziente:  Doc:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Full NBS summary for display & printingRelatório completo de síntese de Triagem Neonatal para exibição ou impressão:  #N/​A:  Pt:  ^Paciente:  Doc:  Relatório completo de síntese de Triagem Neonatal para exibição ou impressão:  #N/​A:  Pt:  ^Paciente:  Doc:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати:  -:  ТчкВрм:  ^Пациент:  Док:  Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати:  -:  ТчкВрм:  ^Пациент:  Док:  Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати:  -:  ТчкВрм:  ^Пациент:  Док:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Informe de cribado total en el recién nacido para su visualización o impresión:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  Doc:  Informe de cribado total en el recién nacido para su visualización o impresión:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  Doc:  Informe de cribado total en el recién nacido para su visualización o impresión:  Propiedades mixtas (sólo paneles):  Punto temporal:  ^paciente:  Doc:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Tam yenidoğan tarama özet raporu görüntü veya baskı için:  -:  Zmlı:  ^Hasta:  Dokm:  Tam yenidoğan tarama özet raporu görüntü veya baskı için:  -:  Zmlı:  ^Hasta:  Dokm:  Tam yenidoğan tarama özet raporu görüntü veya baskı için:  -:  Zmlı:  ^Hasta:  Dokm:  

RELATED NAMES
  Asympt Document Point in time
  Asymptomatic Full NBS summary for display & print Random
  Chemistry New born Scn

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Full newborn screening summary report for display or printing
  Shortname: Full NBS summary for display/printing
  Fully Specified Name: Full newborn screening summary report for display or printing: -: Pt: ^Patient: Doc:
     
  Component Word Count: 9
  ID: 51761
  Status (Raw): ACTIVE


57719-7   Conditions tested for in this newborn screening study [Identifier] in DBSConditions tested for in this newborn screening study [Identifier] in DBSConditions tested for in this newborn screening study: ID: Pt: Bld.dot: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Conditions tested for in this newborn screening study  ID  Pt  Bld.dot  Nom 
  Long Common Name:  Conditions tested for in this newborn screening study [Identifier] in DBS
  Shortname:  Conditions tested for in NBS study DBS

ANSWER CARDINALITY
1..*

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.61
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

PREFERRED ANSWER LIST    (LL841-8)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Code         Answer ID    
  0       Hemoglobin C crystals           LA11231-0  
  1       Hearing loss       HEAR       LA24366-9  
  2       2-Methyl-3-hydroxybutyric aciduria
SNOMEDCT ©: 791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)    
  2M3HBA       LA12464-6  
  3       2-Methylbutyrylglycinuria
SNOMEDCT ©: 445596006 2-methylbutyrylglycinuria (disorder)    
  2MBG       LA12465-3  
  4       3-Methylcrotonyl-CoA carboxylase deficiency
SNOMEDCT ©: 13144005 Methylcrotonyl-CoA carboxylase deficiency (disorder)    
  3-MCC       LA12466-1  
  5       3-Methylcrotonyl-CoA carboxylase deficiency (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  3-MCC (mat)       LA12467-9  
  6       3-Methylglutaconic aciduria
SNOMEDCT ©: 237950009 3-Methylglutaconic aciduria (disorder)    
  3MGA       LA12468-7  
  7       Pyroglutamic acidemia
SNOMEDCT ©: 39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)    
  5-OXO       LA12469-5  
  8       Argininemia       ARG       LA21161-7  
  9       Argininosuccinic aciduria       ASA       LA21162-5  
  10       Biopterin defect in cofactor biosynthesis
SNOMEDCT ©: 237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)    
  BIOPT-BS       LA12472-9  
  11       Biopterin defect in cofactor regeneration
SNOMEDCT ©: 58256000 Dihydropteridine reductase deficiency (disorder)    
  BIOPT-REG       LA12473-7  
  12       Beta-ketothiolase deficiency
SNOMEDCT ©: 237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)    
  BKT       LA12474-5  
  13       Carnitine acylcarnitine translocase deficiency
SNOMEDCT ©: 238003000 Carnitine acylcarnitine translocase deficiency (disorder)    
  CACT       LA12475-2  
  14       Cobalamin A disease
SNOMEDCT ©: 73843004 Cobalamin A disease (disorder)    
  CBL A       LA12476-0  
  15       Cobalamin B disease
SNOMEDCT ©: 82245003 Cobalamin B disease (disorder)    
  CBL B       LA12477-8  
  16       Cobalamin C disease
SNOMEDCT ©: 74653006 Cobalamin C disease (disorder)    
  CBL C       LA12478-6  
  17       Cobalamin D disease
SNOMEDCT ©: 31220004 Cobalamin D disease (disorder)    
  CBL D       LA12479-4  
  18       Cobalamin E disease
SNOMEDCT ©: 360373000 Adenosylcobalamin and methylcobalamin synthesis defect (disorder)    
  CBL E       LA12480-2  
  19       CBL G type Methylcobalamin deficiency
SNOMEDCT ©: 721187005 Methylcobalamin deficiency type cbl G (disorder)    
  CBL G       LA12481-0  
  20       Citrullinemia, type I
SNOMEDCT ©: 398680004 Citrullinemia (disorder)    
  CIT-I       LA12482-8  
  21       Citrullinemia, type II
SNOMEDCT ©: 716863007 Citrullinemia type II (disorder)    
  CIT-II       LA12483-6  
  22       Carbamoyl-phosphate synthase deficiency
SNOMEDCT ©: 62522004 Deficiency of transcarbamoylase (disorder)    
  CPS       LA12484-4  
  23       Carnitine palmitoyltransferase type I deficiency
SNOMEDCT ©: 238001003 Carnitine palmitoyltransferase I deficiency (disorder)    
  CPT-Ia       LA12485-1  
  24       Carnitine palmitoyltransferase type II deficiency
SNOMEDCT ©: 238002005 Carnitine palmitoyltransferase II deficiency (disorder)    
  CPT-II       LA12486-9  
  25       Carnitine uptake deficiency/carnitine transport defect
SNOMEDCT ©: 21764004 Renal carnitine transport defect (disorder)    
  CUD       LA12487-7  
  26       Carnitine uptake deficiency/carnitine transport defect (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  CUD (mat)       LA12488-5  
  27       2,4-Dienoyl-CoA reductase deficiency
SNOMEDCT ©: 444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)    
  De-Red       LA12489-3  
  28       Dihydrolipoamide dehydrogenase deficiency
SNOMEDCT ©: 29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)    
  E3       LA12490-1  
  29       Ethylmalonic encephalopathy
SNOMEDCT ©: 811000124106 Ethylmalonic encephalopathy (disorder)    
  EMA       LA12491-9  
  30       Formiminoglutamic acidemia
SNOMEDCT ©: 59761008 Glutamate formiminotransferase deficiency (disorder)    
  FIGLU       LA12492-7  
  31       Glutaric acidemia type I
SNOMEDCT ©: 76175005 Glutaric aciduria, type 1 (disorder)    
  GA-1       LA12493-5  
  32       Glutaric acidemia (maternal)
SNOMEDCT ©: 206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)    
  GA-1 (mat)       LA12494-3  
  33       Glutaric acidemia type II
SNOMEDCT ©: 22886006 Glutaric aciduria, type 2 (disorder)    
  GA-2       LA12495-0  
  34       Homocystinuria
SNOMEDCT ©: 11282001 Homocystinuria (disorder)    
  HCY       LA12496-8  
  35       Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SNOMEDCT ©: 30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)    
  HHH       LA12497-6  
  36       Histidinemia
SNOMEDCT ©: 410058007 Histidinemia (disorder)    
  HIS       LA12498-4  
  37       3-Hydroxy-3-methylglutaric aciduria
SNOMEDCT ©: 410059004 Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)    
  HMG       LA12499-2  
  38       Hyperphenylalaninemia (variant, benign)
SNOMEDCT ©: 68528007 Hyperphenylalaninemia (disorder)    
  H-PHE       LA12500-7  
  39       Hyperlysinemia
SNOMEDCT ©: 58558003 Hyperlysinemia (disorder)    
  Hyper LYS       LA12501-5  
  40       Girate atrophy of the retina
SNOMEDCT ©: 314467007 Ornithine oxo-acid aminotransferase deficiency (disorder)    
  Hyper ORN       LA12502-3  
  41       Valinemia
SNOMEDCT ©: 47719001 Hypervalinemia (disorder)    
  Hyper VAL       LA12503-1  
  42       Isobutyrylglycinuria
SNOMEDCT ©: 445571008 Isobutyrylglycinuria (disorder)    
  IBG       LA12504-9  
  43       Isovaleric acidemia
SNOMEDCT ©: 87827003 Isovaleryl-CoA dehydrogenase deficiency (disorder)    
  IVA       LA12505-6  
  44       Primary lactic acidemia
SNOMEDCT ©: 190882007 Lactic acidemia (disorder)    
  LACTIC       LA12506-4  
  45       Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 307127004 Mitochondrial trifunctional protein deficiency (disorder)    
  LCHAD       LA12507-2  
  46       Malonic acidemia
SNOMEDCT ©: 124594007 Deficiency of malonyl-CoA decarboxylase (disorder)    
  MAL       LA12508-0  
  47       Medium-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)    
  MCAD       LA12509-8  
  48       Holoocarboxylase synthase deficiency
SNOMEDCT ©: 360369003 Holocarboxylase synthase deficiency (disorder)    
  MCD       LA12510-6  
  49       Medium-chain ketoacyl-CoA thiolase deficiency
SNOMEDCT ©: 124265004 Deficiency of acetyl-CoA acyltransferase (disorder)    
  MCKAT       LA12511-4  
  50       Hypermethioninemia
SNOMEDCT ©: 43123004 Hypermethioninemia (disorder)    
  MET       LA12512-2  
  51       Maple syrup urine disease       MSUD       LA21168-2  
  52       Methylene tetrahydrofolate reductase deficiency
SNOMEDCT ©: 41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)    
  MTHFR       LA12514-8  
  53       Methylmalonic acidemia
SNOMEDCT ©: 124680001 Deficiency of methylmalonyl-CoA mutase (disorder)    
  MUT       LA12515-5  
  54       Nonketotic hyperglycinemia (glycine encephalopathy)
SNOMEDCT ©: 237939006 Non-ketotic hyperglycinemia (disorder)    
  NKHG       LA12516-3  
  55       Hydroxyprolinemia
SNOMEDCT ©: 25739007 Hyperhydroxyprolinemia (disorder)    
  OH PRO       LA12517-1  
  56       Ornithine transcarbamylase deficiency
SNOMEDCT ©: 80908008 Ornithine carbamoyltransferase deficiency (disorder)    
  OTC       LA12518-9  
  57       Pyruvate carboxylase deficiency
SNOMEDCT ©: 87694001 Pyruvate carboxylase deficiency (disorder)    
  PC       LA12519-7  
  58       Classic phenylketonuria
SNOMEDCT ©: 7573000 Classical phenylketonuria (disorder)    
  PKU       LA12520-5  
  59       Hyperprolinemia type I
SNOMEDCT ©: 61071003 Proline dehydrogenase deficiency (disorder)    
  PRO I       LA12521-3  
  60       Hyperprolinemia type II
SNOMEDCT ©: 717181004 Hyperprolinemia type 2 (disorder)    
  PRO II       LA12522-1  
  61       Propionic acidemia
SNOMEDCT ©: 69080001 Propionic acidemia (disorder)    
  PROP       LA12523-9  
  62       Short-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)    
  SCAD       LA12524-7  
  63       Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 237998000 Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (disorder)    
  SCHAD       LA12525-4  
  64       Succinyl-CoA ligase deficiency
SNOMEDCT ©: 445275003 Deficiency of succinate-coenzyme A ligase (disorder)    
  SUCLA2       LA12526-2  
  65       Trifunctional protein deficiency
SNOMEDCT ©: 237999008 Mitochondrial trifunctional protein deficiency (disorder)    
  TFP       LA12527-0  
  66       Tyrosinemia, type I
SNOMEDCT ©: 410056006 Tyrosinemia type I (disorder)    
  TYR-I       LA12528-8  
  67       Tyrosinemia, type II
SNOMEDCT ©: 4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)    
  TYR-II       LA12529-6  
  68       Tyrosinemia, type III
SNOMEDCT ©: 415764005 Tyrosinemia type III (disorder)    
  TYR-III       LA12530-4  
  69       Very long-chain acyl-CoA dehydrogenase deficiency
SNOMEDCT ©: 237997005 Very long chain acyl-CoA dehydrogenase deficiency (disorder)    
  VLCAD       LA12531-2  
  70       Biotinidase deficiency
SNOMEDCT ©: 8808004 Biotinidase deficiency (disorder)    
  BIO       LA12532-0  
  71       Congenital adrenal hyperplasia
SNOMEDCT ©: 237751000 Congenital adrenal hyperplasia (disorder)    
  CAH       LA12533-8  
  72       Cystic fibrosis
SNOMEDCT ©: 190905008 Cystic fibrosis (disorder)    
  CF       LA22202-8  
  73       Primary congenital hypothyroidism
SNOMEDCT ©: 190268003 Congenital hypothyroidism (disorder)    
  CH       LA12538-7  
  74       Secondary congenital hypothyroidism
SNOMEDCT ©: 82598004 Secondary hypothyroidism (disorder)    
  CH2       LA12539-5  
  75       Glucose-6-phosphate dehydrogenase deficiency
SNOMEDCT ©: 124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder)    
  G6PD       LA12540-3  
  76       Galactoepimerase deficiency
SNOMEDCT ©: 8849004 Uridine diphosphate (UDP) glucose-4-epimerase deficiency (disorder)    
  GALE       LA12541-1  
  77       Galactokinase deficiency
SNOMEDCT ©: 124302001 Deficiency of galactokinase (disorder)    
  GALT       LA12542-9  
  78       Classical galactosemia       GALT       LA21165-8  
  79       Hb C-carrier
SNOMEDCT ©: 76050008 Hemoglobin C trait (disorder)    
      LA12602-1  
  80       Hb D-carrier
SNOMEDCT ©: 7391009 Hemoglobin D trait (disorder)    
      LA12603-9  
  81       Hb E-carrier
SNOMEDCT ©: 46248003 Hemoglobin E trait (disorder)    
      LA12604-7  
  82       Hb O-Arab carrier           LA12605-4  
  83       Hb S (sickle)-carrier
SNOMEDCT ©: 16402000 Sickle cell trait (disorder)    
      LA12606-2  
  84       Hb C-disease
SNOMEDCT ©: 51053007 Hemoglobin C disease (disorder)    
      LA12607-0  
  85       Hb C beta-thalassemia
SNOMEDCT ©: 119691000119106 Hemoglobin C/beta thalassemia disease (disorder)    
      LA12608-8  
  86       Hb D-disease           LA12609-6  
  87       Hb D beta-thalassemia
SNOMEDCT ©: 119701000119106 Hemoglobin D/beta thalassemia disease (disorder)    
      LA12610-4  
  88       Hb beta zero-thalassemia
SNOMEDCT ©: 86715000 beta^0^ Thalassemia (disorder)    
      LA12611-2  
  89       Hb E-disease
SNOMEDCT ©: 25065001 Hemoglobin E disease (disorder)    
      LA12612-0  
  90       Hb E beta-thalassemia
SNOMEDCT ©: 234392002 Hemoglobin E/beta thalassemia disease (disorder)    
      LA12613-8  
  91       Hb SS-disease (sickle cell anemia)
SNOMEDCT ©: 127040003 Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)    
      LA12614-6  
  92       Hb S beta-thalassemia
SNOMEDCT ©: 127041004 Sickle cell-beta-thalassemia (disorder)    
      LA12615-3  
  93       Hb SC-disease
SNOMEDCT ©: 35434009 Sickle cell-hemoglobin C disease (disorder)    
      LA12616-1  
  94       Hb SD-disease
SNOMEDCT ©: 25472008 Sickle cell-hemoglobin D disease (disorder)    
      LA12617-9  
  95       Hb SE-disease
SNOMEDCT ©: 47024008 Sickle cell-hemoglobin E disease (disorder)    
      LA12618-7  
  96       Hb S O-Arab disease
SNOMEDCT ©: 127048005 Sickle cell-Hemoglobin O Arab disease (disorder)    
      LA12619-5  
  97       Hb S plus Hb other than A,C,D,E,O-Arab disease
SNOMEDCT ©: 23269001 Double heterozygous sickling disorder    
      LA12620-3  
  98       Hb disease other than A, C, D, E, H,O-Arab, S
SNOMEDCT ©: 80141007 Hemoglobinopathy (disorder)    
      LA12621-1  
  99       Hb carrier other than C, D, E, S ,O-Arab           LA12622-9  
  100       Congenital HIV
SNOMEDCT ©: 52079000 Human immunodeficiency virus infection (disorder)    
  HIV       LA12565-0  
  101       Severe combined immunodeficiency
SNOMEDCT ©: 31323000 Severe combined immunodeficiency disease (disorder)
Description: Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.
  SCID       LA12566-8  
  102       Thyroid-binding globulin deficiency
SNOMEDCT ©: 237544006 Thyroid-binding globulin deficiency (disorder)    
  TBG       LA12567-6  
  103       Congenital toxoplasmosis
SNOMEDCT ©: 73893000 Congenital toxoplasmosis (disorder)    
  TOXO       LA12568-4  
  104       Fabry disease
SNOMEDCT ©: 16652001 Fabry's disease (disorder)
Description: Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
  GLA       LA14036-0  
  105       Pompe disease
SNOMEDCT ©: 274864009 Glycogen storage disease, type II (disorder)
Description: Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
  GAA       LA14037-8  
  106       Krabbe disease
SNOMEDCT ©: 192782005 Galactosylceramide beta-galactosidase deficiency (disorder)
Description: Krabbe disease is an inherited disorder that affects the nervous system.  This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance.
  GALC       LA14038-6  
  107       Gaucher disease
SNOMEDCT ©: 190794006 Glucosylceramide beta-glucosidase deficiency (disorder)
Description: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance.
  GBA       LA14039-4  
  108       Niemann Pick disease A/B
SNOMEDCT ©: 58459009 Sphingomyelin/cholesterol lipidosis (disorder)
Description: Niemann-Pick disease is an inherited disorder in which the body in unable to process fats and cholesterol properly.  People with this condition have some combination of the following features: failure to thrive, an enlarged liver and spleen, neurological problems, frequent lung infections, an increased risk of abnormal blood clots, developmental delay, seizures, and poor muscle tone.  Mutations in the SMPD1 gene causes Niemann-Pick disease; it has an autosomal recessive pattern of inheritance.
  ASM       LA14040-2  
  109       Hb H-disease
SNOMEDCT ©: 48553001 Hemoglobin H disease (disorder)    
      LA16007-9  
  110       Hemoglobinopathies
SNOMEDCT ©: 80141007 Hemoglobinopathy (disorder)    
      LA16207-5  
  111       Critical congenital heart disease
Description: Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
  CCHD       LA20349-9  
  112       X-linked adrenoleukodystrophy
SNOMEDCT ©: 65389002 Adrenoleukodystrophy (disorder)    
  X-ALD       LA25796-6  
  113       Mucopolysaccharidosis type I
SNOMEDCT ©: 75610003 Mucopolysaccharidosis type I (disorder)    
  MPS-I       LA25797-4  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97569-5  Conditions tested for in this newborn screening study 
Property   LP6818-1  ID   [Identifier] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  这项新生儿筛查检查当中的试验所针对的情况:  标识符:  时间点:  全血.斑点:  名义型:  这项新生儿筛查检查当中的试验所针对的情况:  标识符:  时间点:  全血.斑点:  名义型:  这项新生儿筛查检查当中的试验所针对的情况:  标识符:  时间点:  全血.斑点:  名义型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Geteste aandoeningen in deze pasgeborene screeningsonderzoek:  identificator:  Moment:  Gedroogde bloedspot:  Nominaal:  Geteste aandoeningen in deze pasgeborene screeningsonderzoek:  identificator:  Moment:  Gedroogde bloedspot:  Nominaal:  Geteste aandoeningen in deze pasgeborene screeningsonderzoek:  identificator:  Moment:  Gedroogde bloedspot:  Nominaal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Conditions requises pour le dépistage néonatal:  Identifiant:  Ponctuel:  Sang buvard:  Résultat textuel:  Conditions requises pour le dépistage néonatal:  Identifiant:  Ponctuel:  Sang buvard:  Résultat textuel:  Conditions requises pour le dépistage néonatal:  Identifiant:  Ponctuel:  Sang buvard:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Condizioni analizzate in questo studio di screening neonatale:  ID:  Pt:  Sangue.su carta da filtro:  Nom:  Condizioni analizzate in questo studio di screening neonatale:  ID:  Pt:  Sangue.su carta da filtro:  Nom:  Condizioni analizzate in questo studio di screening neonatale:  ID:  Pt:  Sangue.su carta da filtro:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Conditions tested for in this NBS studyCondições testadas no presente estudo de triagem neonatal:  #N/​A:  Pt:  SgPapel:  Nom:  Condições testadas no presente estudo de triagem neonatal:  #N/​A:  Pt:  SgPapel:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Состояния тестированные в данное новорождённый скрининг исследование:  ID:  ТчкВрм:  Кр.Сух.капл:  Ном:  Состояния тестированные в данное новорождённый скрининг исследование:  ID:  ТчкВрм:  Кр.Сух.капл:  Ном:  Состояния тестированные в данное новорождённый скрининг исследование:  ID:  ТчкВрм:  Кр.Сух.капл:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Condiciones probadas en este estudio de cribado neonatal:  Código identificador:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Condiciones probadas en este estudio de cribado neonatal:  Código identificador:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Condiciones probadas en este estudio de cribado neonatal:  Código identificador:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Koşullar yenidoğan tarama çalışmasında test edilen:  Tnmlyc:  Zmlı:  Kan.nokta:  Snf:  Koşullar yenidoğan tarama çalışmasında test edilen:  Tnmlyc:  Zmlı:  Kan.nokta:  Snf:  Koşullar yenidoğan tarama çalışmasında test edilen:  Tnmlyc:  Zmlı:  Kan.nokta:  Snf:  

RELATED NAMES
  Asympt Filter paper Random
  Asymptomatic FP Scn
  Blood Ident Study report
  Chemistry Identifier WB
  Conditions tested for in NBS study New born Whole blood
  DBS Nominal  
  Dried blood spot Point in time  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Conditions tested for in this newborn screening study [Identifier] in DBS
  Shortname: Conditions tested for in NBS study DBS
  Fully Specified Name: Conditions tested for in this newborn screening study: ID: Pt: Bld.dot: Nom:
     
  Component Word Count: 8
  ID: 52392
  Status (Raw): ACTIVE


69969-4   Newborn screening report overall laboratory commentNewborn screening report overall laboratory commentNewborn screening report overall laboratory comment: Txt: Pt: ^Patient: Nar:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn screening report overall laboratory comment  Txt  Pt  ^Patient  Nar 
  Long Common Name:  Newborn screening report overall laboratory comment
  Shortname:  NBS report overall lab comment

TERM DEFINITION/DESCRIPTION(S)
  The use of ZNB or NTE segments for report boilerplate information, such as the list of conditions tested, is not recommended because receiving organizations may not know how to process the data. This LOINC code for Newborn Screening Report Overall Laboratory Comment enables sending this data in an OBX segment. If you send a list of conditions tested or another list, we suggest you use semicolons instead of commas to separate conditions in a list to avoid problems if the condition names contain commas.
 
 

ANSWER CARDINALITY
0..*

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.40
  Last Updated in Version: 2.40
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP145593-2  Newborn screening report overall laboratory comment 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7749-7  Nar 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP34059-3  Screening 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  新生儿筛查报告总体实验室注释:  文本型属性:  时间点:  ^患者:  叙述型:  新生儿筛查报告总体实验室注释:  文本型属性:  时间点:  ^患者:  叙述型:  新生儿筛查报告总体实验室注释:  文本型属性:  时间点:  ^患者:  叙述型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Pasgeborene screening rapport overall laboratoriumopmerkingen:  Tekst:  Moment:  ^Patient:  Tekstueel:  Pasgeborene screening rapport overall laboratoriumopmerkingen:  Tekst:  Moment:  ^Patient:  Tekstueel:  Pasgeborene screening rapport overall laboratoriumopmerkingen:  Tekst:  Moment:  ^Patient:  Tekstueel:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Compte rendu dépistage néonatal - Commentaire:  Texte:  Ponctuel:  Patient:  Commentaire:  Compte rendu dépistage néonatal - Commentaire:  Texte:  Ponctuel:  Patient:  Commentaire:  Compte rendu dépistage néonatal - Commentaire:  Texte:  Ponctuel:  Patient:  Commentaire:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale, referto di commento complessivo risultati di laboratorio:  Txt:  Pt:  ^Paziente:  Nar:  Screening neonatale, referto di commento complessivo risultati di laboratorio:  Txt:  Pt:  ^Paziente:  Nar:  Screening neonatale, referto di commento complessivo risultati di laboratorio:  Txt:  Pt:  ^Paziente:  Nar:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённых скрининг отчёт полный лаборатории комментарий:  Txt:  ТчкВрм:  ^Пациент:  Опис:  Новорождённых скрининг отчёт полный лаборатории комментарий:  Txt:  ТчкВрм:  ^Пациент:  Опис:  Новорождённых скрининг отчёт полный лаборатории комментарий:  Txt:  ТчкВрм:  ^Пациент:  Опис:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Comentario de informe de screening de recién nacidos:  Texto:  Punto temporal:  ^paciente:  Narrativo:  Comentario de informe de screening de recién nacidos:  Texto:  Punto temporal:  ^paciente:  Narrativo:  Comentario de informe de screening de recién nacidos:  Texto:  Punto temporal:  ^paciente:  Narrativo:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Yenidoğan tarama raporu genel laboratuvar önerisi:  Metin:  Zmlı:  ^Hasta:  Öykü:  Yenidoğan tarama raporu genel laboratuvar önerisi:  Metin:  Zmlı:  ^Hasta:  Öykü:  Yenidoğan tarama raporu genel laboratuvar önerisi:  Metin:  Zmlı:  ^Hasta:  Öykü:  

RELATED NAMES
  Asympt Comments Remarks
  Asymptomatic Commt Report
  Chemistry Narrative Scn
  cmmt NBS report overall lab comment Text
  cmnt New born  
  Com Point in time  
  Comm Random  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn screening report overall laboratory comment
  Shortname: NBS report overall lab comment
  Fully Specified Name: Newborn screening report overall laboratory comment: Txt: Pt: ^Patient: Nar:
     
  Component Word Count: 6
  ID: 69289
  Status (Raw): ACTIVE


57717-1   Newborn screen card data panelNewborn screen card data panelNewborn screen card data panel: -: Pt: Bld.dot: -:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn screen card data panel  Pt  Bld.dot 
  Long Common Name:  Newborn screen card data panel
  Shortname:  NBS card data pnl

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: PANEL.CHEM/Lab
  Panel Type: Organizer
  First Released in Version: 2.29
  Last Updated in Version: 2.40
  Order vs. Obs.: Order
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97567-9  Newborn screen card data panel 
Property   LP6769-6 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7747-1 
Fragments for synonyms   LP21059-8  Panel 
Fragments for synonyms   LP91459-5  newborn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  新生儿筛查卡数据组套:  -:  时间点:  全血.斑点:  -:  新生儿筛查卡数据组套:  -:  时间点:  全血.斑点:  -:  新生儿筛查卡数据组套:  -:  时间点:  全血.斑点:  -:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Pasgeborene Screening card data panel:  -:  Moment:  Gedroogde bloedspot:  -:  Pasgeborene Screening card data panel:  -:  Moment:  Gedroogde bloedspot:  -:  Pasgeborene Screening card data panel:  -:  Moment:  Gedroogde bloedspot:  -:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Newborn screen card data panel:  -:  Temps ponctuel:  Sang sur papier filtre:  -:  Newborn screen card data panel:  -:  Temps ponctuel:  Sang sur papier filtre:  -:  Newborn screen card data panel:  -:  Temps ponctuel:  Sang sur papier filtre:  -:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Screening neonatale, panel scheda dati:  -:  Pt:  Sangue.su carta da filtro:  -:  Screening neonatale, panel scheda dati:  -:  Pt:  Sangue.su carta da filtro:  -:  Screening neonatale, panel scheda dati:  -:  Pt:  Sangue.su carta da filtro:  -:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NBS card data pnlRecém-nascido quadro cartão painel de dados:  #N/​A:  Pt:  SgPapel:  -:  Recém-nascido quadro cartão painel de dados:  #N/​A:  Pt:  SgPapel:  -:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый скрин карта данные панель:  -:  ТчкВрм:  Кр.Сух.капл:  -:  Новорождённый скрин карта данные панель:  -:  ТчкВрм:  Кр.Сух.капл:  -:  Новорождённый скрин карта данные панель:  -:  ТчкВрм:  Кр.Сух.капл:  -:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Panel de cribado de tarjeta de datos del recién nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  Punto de sangre (papel de filtro):  -:  Panel de cribado de tarjeta de datos del recién nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  Punto de sangre (papel de filtro):  -:  Panel de cribado de tarjeta de datos del recién nacido:  Propiedades mixtas (sólo paneles):  Punto temporal:  Punto de sangre (papel de filtro):  -:  

RELATED NAMES
  Blood New born Scn
  Chemistry Pan Scr
  DBS PANEL.CHEMISTRY Scrn
  Dried blood spot Panl WB
  Filter paper Pnl Whole blood
  FP Point in time  
  NBS card data pnl Random  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Newborn screen card data panel
  Shortname: NBS card data pnl
  Fully Specified Name: Newborn screen card data panel: -: Pt: Bld.dot: -:
     
  Component Word Count: 5
  ID: 52390
  Status (Raw): ACTIVE


57716-3   State printed on filter paper card [Identifier] in NBS cardState printed on filter paper card [Identifier] in NBS cardState printed on filter paper card: ID: Pt: NBS card: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
State printed on filter paper card  ID  Pt  NBS card  Nom 
  Long Common Name:  State printed on filter paper card [Identifier] in NBS card
  Shortname:  State printed on card NBS card

TERM DEFINITION/DESCRIPTION(S)
  This is the state pre-printed on the NBS card
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.29
  Last Updated in Version: 2.36
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP97566-1  State printed on filter paper card 
Property   LP6818-1  ID   [Identifier] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP97572-9  NBS card 
Scale   LP7750-5  Nom 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  印刷在滤纸卡片上的州名:  标识符:  时间点:  新生儿筛查卡:  名义型:  印刷在滤纸卡片上的州名:  标识符:  时间点:  新生儿筛查卡:  名义型:  印刷在滤纸卡片上的州名:  标识符:  时间点:  新生儿筛查卡:  名义型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Gesteldheid afgedrukt op filtreerpapierkaartje:  identificator:  Moment:  NBS kaart:  Nominaal:  Gesteldheid afgedrukt op filtreerpapierkaartje:  identificator:  Moment:  NBS kaart:  Nominaal:  Gesteldheid afgedrukt op filtreerpapierkaartje:  identificator:  Moment:  NBS kaart:  Nominaal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  État imprimé carte filtre:  Identifiant:  Ponctuel:  Carte d'identité:  Résultat textuel:  État imprimé carte filtre:  Identifiant:  Ponctuel:  Carte d'identité:  Résultat textuel:  État imprimé carte filtre:  Identifiant:  Ponctuel:  Carte d'identité:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Stato di origine:  ID:  Pt:  NBS, gene:  Nom:  Stato di origine:  ID:  Pt:  NBS, gene:  Nom:  Stato di origine:  ID:  Pt:  NBS, gene:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  State of origin NBS cardEstado de origem:  #N/​A:  Pt:  Cartão NBS:  Nom:  Estado de origem:  #N/​A:  Pt:  Cartão NBS:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Штат, напечатанный на фильтрующей бумажной карте:  ID:  ТчкВрм:  NBS карта:  Ном:  Штат, напечатанный на фильтрующей бумажной карте:  ID:  ТчкВрм:  NBS карта:  Ном:  Штат, напечатанный на фильтрующей бумажной карте:  ID:  ТчкВрм:  NBS карта:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Estado de origen:  Código identificador:  Punto temporal:  Tarjeta NBS:  Nom:  Estado de origen:  Código identificador:  Punto temporal:  Tarjeta NBS:  Nom:  Estado de origen:  Código identificador:  Punto temporal:  Tarjeta NBS:  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Filtre kağıdına basılmış durum:  Tnmlyc:  Zmlı:  YenidoğanKart:  Snf:  Filtre kağıdına basılmış durum:  Tnmlyc:  Zmlı:  YenidoğanKart:  Snf:  Filtre kağıdına basılmış durum:  Tnmlyc:  Zmlı:  YenidoğanKart:  Snf:  

RELATED NAMES
  Chemistry Nominal State printed on card
  Ident Point in time  
  Identifier Random  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: State printed on filter paper card [Identifier] in NBS card
  Shortname: State printed on card NBS card
  Fully Specified Name: State printed on filter paper card: ID: Pt: NBS card: Nom:
     
  Component Word Count: 6
  ID: 52389
  Status (Raw): ACTIVE


79566-6   Collection method - DBSCollection method - DBSCollection method: Type: Pt: Bld.dot: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Collection method  Type  Pt  Bld.dot  Nom 
  Long Common Name:  Collection method - DBS
  Shortname:  Collection method DBS

TERM DEFINITION/DESCRIPTION(S)
  The method used to collect a dried blood spot specimen, typically for newborn screening.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: SPEC/Lab
  First Released in Version: 2.54
  Last Updated in Version: 2.61
  Order vs. Obs.: Observation
  Status: Active

PREFERRED ANSWER LIST    (LL3860-5)  
 
Source: Newborn screening workgroup
  SEQ#        Answer        Answer ID    
  1       Heel stick       LA25402-1  
  2       Capillary tube       LA25403-9  
  3       Line draw       LA25404-7  
  4       Other       LA46-8  
  5       Unknown
SNOMEDCT ©: 261665006 Unknown (qualifier value)    
  LA4489-6  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP32732-7  Collection method 
Property   LP6886-8  Type 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP20988-9  Collection 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  采集方法:  类型:  时间点:  全血.斑点:  名义型:  采集方法:  类型:  时间点:  全血.斑点:  名义型:  采集方法:  类型:  时间点:  全血.斑点:  名义型:  
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  Verzamelmethode:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  Verzamelmethode:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  Verzamelmethode:  Type:  Moment:  Gedroogde bloedspot:  Nominaal:  
  Estonian (ESTONIA)  (From: Regenstrief-generated full translation based on part translation provided by Estonian E-Health Foundation)
 
  Kogumise meetod:  Tüüp:  Pt:  Vereplekk:  Nom:  Kogumise meetod:  Tüüp:  Pt:  Vereplekk:  Nom:  Kogumise meetod:  Tüüp:  Pt:  Vereplekk:  Nom:  
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Méthode de prélèvement:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Méthode de prélèvement:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Méthode de prélèvement:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  French (CANADA)  (From: Regenstrief-generated full translation based on part translation provided by Canada Health Infoway Inc.)
 
  Méthode de prélèvement:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Méthode de prélèvement:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  Méthode de prélèvement:  Type:  Temps ponctuel:  Sang sur papier filtre:  Nominal:  
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Méthode du recueil:  Type:  Ponctuel:  Sang buvard:  Résultat textuel:  Méthode du recueil:  Type:  Ponctuel:  Sang buvard:  Résultat textuel:  Méthode du recueil:  Type:  Ponctuel:  Sang buvard:  Résultat textuel:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Raccolta, metodo:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  Raccolta, metodo:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  Raccolta, metodo:  Tipo:  Pt:  Sangue.su carta da filtro:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Изъятия метод:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  Изъятия метод:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  Изъятия метод:  Тип:  ТчкВрм:  Кр.Сух.капл:  Ном:  
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Método de recolección:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Método de recolección:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  Método de recolección:  Tipo:  Punto temporal:  Punto de sangre (papel de filtro):  Nom:  
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Toplama yöntemi:  Tip:  Zmlı:  Kan.nokta:  Snf:  Toplama yöntemi:  Tip:  Zmlı:  Kan.nokta:  Snf:  Toplama yöntemi:  Tip:  Zmlı:  Kan.nokta:  Snf:  

RELATED NAMES
  Blood Filter paper Random
  Coll FP SPEC
  Collect Meth Typ
  Collected Method of WB
  DBS Nominal Whole blood
  Dried blood spot Point in time  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Long Common Name: Collection method - DBS
  Shortname: Collection method DBS
  Fully Specified Name: Collection method: Type: Pt: Bld.dot: Nom:
     
  Component Word Count: 0
  ID: 83330
  Status (Raw): ACTIVE


8339-4   Birth weight MeasuredBirth weight MeasuredBody weight^at birth: Mass: Pt: ^Patient: Qn: Measured  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Body weight^at birth  Mass  Pt  ^Patient  Qn  Measured
  Override Display Name for Form:  Birthweight
  Long Common Name:  Birth weight Measured
  Shortname:  Birth weight Measured

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: BDYWGT.MOLEC/Clinical
  First Released in Version: 1.0h(2)
  Last Updated in Version: 2.44
  Status: Active

MEMBER OF THESE PANELS
  39294-4   Children's preventive health services attachment SetChildren's preventive health services attachment SetChildren's preventive health services attachment: Cmplx: Pt: ^Patient: Set:
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC
  86347-2   U.S. standard certificate of live birth - recommended 2003 revision setU.S. standard certificate of live birth - recommended 2003 revision setU.S. standard certificate of live birth - recommended 2003 revision set: -: Pt: {Setting}: -:

PARTS

Part Type    Part No.  Part Name   
Component   LP65139-5  Body weight 
     Challenge   LP71937-4  at birth 
Property   LP6826-4  Mass 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7753-9  Qn 
Method   LP6378-6  Measured 
Fragments for synonyms   LP91394-4  at birth 
Fragments for synonyms   LP28569-9  Body 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  体重^出生时:  质量:  时间点:  ^患者:  定量型:  测量法体重^出生时:  质量:  时间点:  ^患者:  定量型:  测量法体重^出生时:  质量:  时间点:  ^患者:  定量型:  测量法
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Peso corporeo^alla nascita:  Massa:  Pt:  ^Paziente:  Qn:  MisuratoPeso corporeo^alla nascita:  Massa:  Pt:  ^Paziente:  Qn:  MisuratoPeso corporeo^alla nascita:  Massa:  Pt:  ^Paziente:  Qn:  Misurato
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Weight @ birth MeasuredPeso corpóreo^no nascimento:  Massa:  Pt:  ^Paciente:  Qn:  MensuradoPeso corpóreo^no nascimento:  Massa:  Pt:  ^Paciente:  Qn:  Mensurado
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Масса тела^при рождении:  Масса:  ТчкВрм:  ^Пациент:  Колич:  ИзмеренныйМасса тела^при рождении:  Масса:  ТчкВрм:  ^Пациент:  Колич:  ИзмеренныйМасса тела^при рождении:  Масса:  ТчкВрм:  ^Пациент:  Колич:  Измеренный
  Spanish (ARGENTINA)  (From: Conceptum Medical Terminology Center)
 
  peso corporal^al nacimiento:masa:punto en el tiempo:^paciente:cuantitativo:medidopeso corporal^al nacimiento:  masa:  punto en el tiempo:  ^paciente:  cuantitativo:  medidopeso corporal^al nacimiento:  masa:  punto en el tiempo:  ^paciente:  cuantitativo:  medido

RELATED NAMES
  @ birth New born Quant
  Bdy weight Newborn Quantitative
  bod Point in time Random
  Bodies QNT Wt
  BODY WEIGHT.MOLEC Quan  

EXAMPLE UNITS
  Unit  Source Type
  EXAMPLE UCUM UNITS 
  lb  REGENSTRIEF 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit: 
  Source Type:  REGENSTRIEF 
  Unit:  lb 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Long Common Name: Birth weight Measured
  Shortname: Birth weight Measured
  Fully Specified Name: Body weight^at birth: Mass: Pt: ^Patient: Qn: Measured
     
  Component Word Count: 4
  ID: 65852
  Status (Raw): ACTIVE


58229-6   Body weight Measured --when specimen takenBody weight Measured --when specimen takenBody weight^when specimen taken: Mass: Pt: ^Patient: Qn: Measured  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Body weight^when specimen taken  Mass  Pt  ^Patient  Qn  Measured
  Long Common Name:  Body weight Measured --when specimen taken
  Shortname:  Weight when spec taken Measured

TERM DEFINITION/DESCRIPTION(S)
  requested as option in new born screening for interpretation of NBS results which may vary with infants weight at the time of the specimen which might be different enough from birth weight to be important.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: CLIN/Clinical
  First Released in Version: 2.30
  Last Updated in Version: 2.34
  Order vs. Obs.: Observation
  Status: Active

SUBMITTER'S INFORMATION
  Submitted Units: g

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP65139-5  Body weight 
     Challenge   LP98851-6  when specimen taken 
Property   LP6826-4  Mass 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7753-9  Qn 
Method   LP6378-6  Measured 
Fragments for synonyms   LP28569-9  Body 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  体重^采集标本时:  质量:  时间点:  ^患者:  定量型:  测量法体重^采集标本时:  质量:  时间点:  ^患者:  定量型:  测量法体重^采集标本时:  质量:  时间点:  ^患者:  定量型:  测量法
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Peso corporeo^quando è prelevato il campione:  Massa:  Pt:  ^Paziente:  Qn:  MisuratoPeso corporeo^quando è prelevato il campione:  Massa:  Pt:  ^Paziente:  Qn:  MisuratoPeso corporeo^quando è prelevato il campione:  Massa:  Pt:  ^Paziente:  Qn:  Misurato
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Weight when spec taken MeasuredPeso corporal^quando a amostra é utilizada:  #N/​A:  Pt:  ^Paciente:  Qn:  MensuradoPeso corporal^quando a amostra é utilizada:  #N/​A:  Pt:  ^Paciente:  Qn:  Mensurado
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Масса тела^когда образец изъят:  Масса:  ТчкВрм:  ^Пациент:  Колич:  ИзмеренныйМасса тела^когда образец изъят:  Масса:  ТчкВрм:  ^Пациент:  Колич:  ИзмеренныйМасса тела^когда образец изъят:  Масса:  ТчкВрм:  ^Пациент:  Колич:  Измеренный

RELATED NAMES
  Bdy weight QNT Spec
  bod Quan when spec taken
  Bodies Quant Wt
  CLIN Quantitative  
  Point in time Random  

EXAMPLE UNITS
  Unit  Source Type
  EXAMPLE UCUM UNITS 
  ORIGINAL SUBMISSION 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit: 
  Source Type:  ORIGINAL SUBMISSION 
  Unit: 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Body weight Measured --when specimen taken
  Shortname: Weight when spec taken Measured
  Fully Specified Name: Body weight^when specimen taken: Mass: Pt: ^Patient: Qn: Measured
     
  Component Word Count: 5
  ID: 52749
  Status (Raw): ACTIVE


57715-5   Birth timeBirth timeBirth time: ClockTime: Pt: ^Patient: Qn:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Birth time  ClockTime  Pt  ^Patient  Qn 
  Override Display Name for Form:  Time of birth
  Long Common Name:  Birth time
  Shortname:  Birth time

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: H&P.HX/Clinical
  First Released in Version: 2.29
  Last Updated in Version: 2.48
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC
  75854-0   PCORnet common data model set - version 1.0 [PCORnet]PCORnet common data model set - version 1.0 [PCORnet]PCORnet common data model set - version 1.0: -: Pt: ^Patient: -: PCORnet
  85057-8   PCORnet Common Data Model set - version 3.0 [PCORnet]PCORnet Common Data Model set - version 3.0 [PCORnet]PCORnet common data model set - version 3.0: -: Pt: ^Patient: -: PCORnet

PARTS

Part Type    Part No.  Part Name   
Component   LP97565-3  Birth time 
Property   LP101588-4  ClockTime   [Clock time] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7753-9  Qn 
Fragments for synonyms   LP75922-2  P' 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  出生时间:  时钟时间:  时间点:  ^患者:  定量型:  出生时间:  时钟时间:  时间点:  ^患者:  定量型:  出生时间:  时钟时间:  时间点:  ^患者:  定量型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Nascita, ora:  ClockTime:  Pt:  ^Paziente:  Qn:  Nascita, ora:  ClockTime:  Pt:  ^Paziente:  Qn:  Nascita, ora:  ClockTime:  Pt:  ^Paziente:  Qn:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Birth timeTempo de Nascimento:  Tempo:  Pt:  ^Paciente:  Qn:  Tempo de Nascimento:  Tempo:  Pt:  ^Paciente:  Qn:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Рождение время:  ClockTime:  ТчкВрм:  ^Пациент:  Колич:  Рождение время:  ClockTime:  ТчкВрм:  ^Пациент:  Колич:  Рождение время:  ClockTime:  ТчкВрм:  ^Пациент:  Колич:  

RELATED NAMES
  Clock time Point in time Quantitative
  H+P QNT Random
  H+P.HX Quan  
  P prime Quant  

EXAMPLE UNITS
  Unit  Source Type
  {clock_time}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {clock_time} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Birth time
  Shortname: Birth time
  Fully Specified Name: Birth time: ClockTime: Pt: ^Patient: Qn:
     
  Component Word Count: 2
  ID: 52388
  Status (Raw): ACTIVE


73806-2   Newborn age in hoursNewborn age in hoursNewborn age in hours: Time: Pt: ^Patient: Qn:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Newborn age in hours  Time  Pt  ^Patient  Qn 
  Long Common Name:  Newborn age in hours
  Shortname:  Nwbrn age hours

TERM DEFINITION/DESCRIPTION(S)
  Age of the newborn reported in hours.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: H&P.PX/Clinical
  First Released in Version: 2.44
  Last Updated in Version: 2.52
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP172863-5  Newborn age in hours 
Property   LP6879-3  Time   [Time (e.g. seconds)] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7753-9  Qn 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP75922-2  P' 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  按小时数计算的新生儿年龄:  时间:  时间点:  ^患者:  定量型:  按小时数计算的新生儿年龄:  时间:  时间点:  ^患者:  定量型:  按小时数计算的新生儿年龄:  时间:  时间点:  ^患者:  定量型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Neonato, età in ore:  Tempo:  Pt:  ^Paziente:  Qn:  Neonato, età in ore:  Tempo:  Pt:  ^Paziente:  Qn:  Neonato, età in ore:  Tempo:  Pt:  ^Paziente:  Qn:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Новорождённый возраст в часах:  Время:  ТчкВрм:  ^Пациент:  Колич:  Новорождённый возраст в часах:  Время:  ТчкВрм:  ^Пациент:  Колич:  Новорождённый возраст в часах:  Время:  ТчкВрм:  ^Пациент:  Колич:  

RELATED NAMES
  H+P P prime Quant
  H+P.PX Point in time Quantitative
  New born QNT Random
  Nwbrn age hours Quan  

EXAMPLE UNITS
  Unit  Source Type
  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit: 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Long Common Name: Newborn age in hours
  Shortname: Nwbrn age hours
  Fully Specified Name: Newborn age in hours: Time: Pt: ^Patient: Qn:
     
  Component Word Count: 0
  ID: 74096
  Status (Raw): ACTIVE


57722-1   Birth plurality of PregnancyBirth plurality of PregnancyBirth plurality: Num: Pt: Pregnancy: Ord:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Birth plurality  Num  Pt  Pregnancy  Ord 
  Long Common Name:  Birth plurality of Pregnancy
  Shortname:  Birth plurality

TERM DEFINITION/DESCRIPTION(S)
  The number of fetuses delivered live or dead at any time in the pregnancy regardless of gestational age or if the fetuses were delivered at different dates in the pregnancy.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: H&P.PX/Clinical
  First Released in Version: 2.29
  Last Updated in Version: 2.32
  Status: Active

NORMATIVE ANSWER LIST    (LL829-3)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Code         Answer ID    
  1       1       1       LA6112-2  
  2       2       2       LA6113-0  
  3       3       3       LA6114-8  
  4       4       4       LA6115-5  
  5       5       5       LA10137-0  
  6       6       6       LA10138-8  
  7       7       7       LA10139-6  
  8       8       8       LA10140-4  
  9       9       9       LA10141-2  
  10       10       10       LA13942-0  
  11       11       11       LA14557-5  
  12       12       12       LA14558-3  
  13       Unknown plurality       99       LA12914-0  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC
  86346-4   U.S. standard report of fetal death - recommended 2003 revision setU.S. standard report of fetal death - recommended 2003 revision setU.S. standard report of fetal death - recommended 2003 revision set: -: Pt: {Setting}: -:
  86347-2   U.S. standard certificate of live birth - recommended 2003 revision setU.S. standard certificate of live birth - recommended 2003 revision setU.S. standard certificate of live birth - recommended 2003 revision set: -: Pt: {Setting}: -:

PARTS

Part Type    Part No.  Part Name   
Component   LP97573-7  Birth plurality 
Property   LP6841-3  Num   [Number (count)] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP100811-1  Pregnancy 
Scale   LP7751-3  Ord 
Fragments for synonyms   LP75920-6  Pregnancy 
Fragments for synonyms   LP75922-2  P' 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  出生胎儿数量:  数量(计数):  时间点:  妊娠:  序数型:  出生胎儿数量:  数量(计数):  时间点:  妊娠:  序数型:  出生胎儿数量:  数量(计数):  时间点:  妊娠:  序数型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Nascita, pluralità:  Num:  Pt:  Gravidanza:  Ord:  Nascita, pluralità:  Num:  Pt:  Gravidanza:  Ord:  Nascita, pluralità:  Num:  Pt:  Gravidanza:  Ord:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Birth pluralityNascimentos múltiplos:  #N/​A:  Pt:  Gravidez:  Ord:  Nascimentos múltiplos:  #N/​A:  Pt:  Gravidez:  Ord:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Рождение множественность:  Кол:  ТчкВрм:  Беременность:  Пор:  Рождение множественность:  Кол:  ТчкВрм:  Беременность:  Пор:  Рождение множественность:  Кол:  ТчкВрм:  Беременность:  Пор:  

RELATED NAMES
  Birth pleurality H+P.PX Qual
  Cnt Number Qualitative
  Count Ordinal Random
  Gestation P prime Screen
  Gestations Point in time  
  Gravida Pregnancies  
  H+P QL  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Birth plurality of Pregnancy
  Shortname: Birth plurality
  Fully Specified Name: Birth plurality: Num: Pt: Pregnancy: Ord:
     
  Component Word Count: 2
  ID: 52395
  Status (Raw): ACTIVE


57714-8   Obstetric estimation of gestational ageObstetric estimation of gestational ageObstetric estimation of gestational age: Time: Pt: ^Patient: Qn:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Obstetric estimation of gestational age  Time  Pt  ^Patient  Qn 
  Long Common Name:  Obstetric estimation of gestational age
  Shortname:  OB est of GA

TERM DEFINITION/DESCRIPTION(S)
  The obstetric estimate of the infant's gestation in completed weeks based on the birth attendant's final estimate of gestation which should be determined by all perinatal factors and assessments such as ultrasound, but not the neonatal exam.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: H&P.HX/Clinical
  First Released in Version: 2.29
  Last Updated in Version: 2.40
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP99286-4  Obstetric estimation of gestational age 
Property   LP6879-3  Time   [Time (e.g. seconds)] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7753-9  Qn 
Fragments for synonyms   LP75922-2  P' 
Fragments for synonyms   LP97554-7  Obstetric 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  孕龄的产科学估计:  时间:  时间点:  ^患者:  定量型:  孕龄的产科学估计:  时间:  时间点:  ^患者:  定量型:  孕龄的产科学估计:  时间:  时间点:  ^患者:  定量型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Stima ostetrica di età gestazionale:  Tempo:  Pt:  ^Paziente:  Qn:  Stima ostetrica di età gestazionale:  Tempo:  Pt:  ^Paziente:  Qn:  Stima ostetrica di età gestazionale:  Tempo:  Pt:  ^Paziente:  Qn:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  OB est of GAEstimativa obstétrica da idade gestacional:  Tempo:  Pt:  ^Paciente:  Qn:  Estimativa obstétrica da idade gestacional:  Tempo:  Pt:  ^Paciente:  Qn:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Акушерская оценка гестационный возраст:  Время:  ТчкВрм:  ^Пациент:  Колич:  Акушерская оценка гестационный возраст:  Время:  ТчкВрм:  ^Пациент:  Колич:  Акушерская оценка гестационный возраст:  Время:  ТчкВрм:  ^Пациент:  Колич:  

RELATED NAMES
  GA Obstetrical Quan
  Gest Obstetrics Quant
  Gestation P prime Quantitative
  H+P Point in time Random
  H+P.HX Pregnancy  
  OB Prenatal  
  OB est of GA QNT  

EXAMPLE UNITS
  Unit  Source Type
  wk  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  wk 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Obstetric estimation of gestational age
  Shortname: OB est of GA
  Fully Specified Name: Obstetric estimation of gestational age: Time: Pt: ^Patient: Qn:
     
  Component Word Count: 5
  ID: 52387
  Status (Raw): ACTIVE


57713-0   Infant factors that affect newborn screening interpretationInfant factors that affect newborn screening interpretationInfant factors that affect newborn screening interpretation: Find: Pt: ^Patient: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Infant factors that affect newborn screening interpretation  Find  Pt  ^Patient  Nom 
  Long Common Name:  Infant factors that affect newborn screening interpretation
  Shortname:  Inf factors affecting NBS imp

TERM DEFINITION/DESCRIPTION(S)
  Use this term to record various infant factors (also known as events), including treatments or conditions, that occur prior to collection of the newborn screening (NBS) specimen, and can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other infant factors that affect newborn screening interpretation" to give additional details. Select the answer "Infant in ICU at time of specimen collection" if the infant was in an intensive care unit, neonatal intensive care unit (NICU) or special care baby unit (SCBU). ECMO (extra corporeal membrane oxygenation, aka heart-lung bypass) can affect NBS results for hemoglobinopathies and GALT. Dopamine can affect NBS results for TSH. Steroid treatment can affect NBS results for TSH and 17-OHP. Iodine can affect NBS results for TSH and T4. Antibiotics can affect NBS results for C5. Some anti-seizure medications can affect NBS results for fatty acids. In screening for cystic fibrosis (CF), those babies presenting with meconium ileus or other bowel obstruction often have falsely low IRT's, so some states when they have that information, skip the IRT and go directly to DNA for their screen. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
 
 

ANSWER CARDINALITY
1..*

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: H&P.HX/Clinical
  First Released in Version: 2.29
  Last Updated in Version: 2.58
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.; Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU.

PREFERRED ANSWER LIST    (LL830-1)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Answer ID    
  1       None
SNOMEDCT ©: 260413007 None (qualifier value)    
  LA137-2  
  2       Infant in NICU at time of specimen collection       LA12419-0  
  3       Infant in special care setting (other than ICU) at time of specimen collection       LA25801-4  
  4       Preterm/Low birth weight (LBW)       LA25802-2  
  5       Any blood product transfusion (including ECLS/ECMO)       LA12417-4  
  6       Dopamine       LA16923-7  
  7       Topical iodine       LA16924-5  
  8       Acute illness       LA25803-0  
  9       Hypothyroxinemia of preterm birth       LA25804-8  
  10       Significant hypoxia       LA25812-1  
  11       Immature hypothalamic/pituitary axis       LA25805-5  
  12       Immature liver enzymes       LA25806-3  
  13       Immature renal system       LA25807-1  
  14       Iodine deficiency       LA25809-7  
  15       Liver disease       LA25810-5  
  16       Other conditions, such as biliary atresia, intestinal perforation, abdominal wall defects, septicemia, CMV, renal failure, T21, T18, T13       LA25811-3  
  17       Parenteral steroid treatment       LA16925-2  
  18       Systemic antibiotics before newborn screening       LA12420-8  
  19       Meconium ileus or other bowel obstruction       LA16927-8  
  20       Thoracic surgery involving thymectomy       LA25815-4  
  21       Immunosuppressive therapy of baby or mother       LA25808-9  
  22       Total parenteral nutrition (TPN) or similar feeding       LA25816-2  
  23       Special lactose-free diet       LA25813-9  
  24       Special low protein diet       LA25814-7  
  25       Other       LA46-8  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP133643-9  Infant factors that affect newborn screening interpretation 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP75922-2  P' 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  影响新生儿筛查解释的婴儿因素:  发现:  时间点:  ^患者:  名义型:  影响新生儿筛查解释的婴儿因素:  发现:  时间点:  ^患者:  名义型:  影响新生儿筛查解释的婴儿因素:  发现:  时间点:  ^患者:  名义型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Fattori di unità di cura infantile neonatale che influenzano interpretazione di screening neonatale:  Osservazione:  Pt:  ^Paziente:  Nom:  Fattori di unità di cura infantile neonatale che influenzano interpretazione di screening neonatale:  Osservazione:  Pt:  ^Paziente:  Nom:  Fattori di unità di cura infantile neonatale che influenzano interpretazione di screening neonatale:  Osservazione:  Pt:  ^Paziente:  Nom:  
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Clinical events that affect NBS interpOs eventos clínicos que afetam a interpretação de triagem neonatal:  Achado:  Pt:  ^Paciente:  Nom:  Os eventos clínicos que afetam a interpretação de triagem neonatal:  Achado:  Pt:  ^Paciente:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:  Находка:  ТчкВрм:  ^Пациент:  Ном:  Младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:  Находка:  ТчкВрм:  ^Пациент:  Ном:  Младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:  Находка:  ТчкВрм:  ^Пациент:  Ном:  

RELATED NAMES
  Asympt Inf factors affecting NBS imp P prime
  Asymptomatic Interp Point in time
  Clinical events Interpret Random
  Finding Interpt Scn
  Findings Intrp  
  H+P New born  
  H+P.HX Nominal  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Infant factors that affect newborn screening interpretation
  Shortname: Inf factors affecting NBS imp
  Fully Specified Name: Infant factors that affect newborn screening interpretation: Find: Pt: ^Patient: Nom:
     
  Component Word Count: 8
  ID: 52386
  Status (Raw): ACTIVE


67703-9   Other infant factors that affect newborn screening interpretation NarrativeOther infant factors that affect newborn screening interpretation NarrativeOther infant factors that affect newborn screening interpretation: Find: Pt: ^Patient: Nar:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Other infant factors that affect newborn screening interpretation  Find  Pt  ^Patient  Nar 
  Long Common Name:  Other infant factors that affect newborn screening interpretation Narrative
  Shortname:  Other Inf factors affecting NBS imp

CONDITION FOR INCLUSION
Use this term to give additional detail if you select answer “Other” (LA46-8) for Infant NICU factors that affect newborn screening interpretation (57713-0).

ANSWER CARDINALITY
0..*

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: H&P.HX/Clinical
  First Released in Version: 2.38
  Last Updated in Version: 2.58
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU.

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP133644-7  Other infant factors that affect newborn screening interpretation 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7749-7  Nar 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP75922-2  P' 
Fragments for synonyms   LP21049-9  Other 
Fragments for synonyms   LP34059-3  Screening 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  影响新生儿筛查解释的其他婴儿因素:  发现:  时间点:  ^患者:  叙述型:  影响新生儿筛查解释的其他婴儿因素:  发现:  时间点:  ^患者:  叙述型:  影响新生儿筛查解释的其他婴儿因素:  发现:  时间点:  ^患者:  叙述型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Altri fattori UTIN che influenzano interpretazione screening neonatale:  Osservazione:  Pt:  ^Paziente:  Nar:  Altri fattori UTIN che influenzano interpretazione screening neonatale:  Osservazione:  Pt:  ^Paziente:  Nar:  Altri fattori UTIN che influenzano interpretazione screening neonatale:  Osservazione:  Pt:  ^Paziente:  Nar:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Другие младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:  Находка:  ТчкВрм:  ^Пациент:  Опис:  Другие младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:  Находка:  ТчкВрм:  ^Пациент:  Опис:  Другие младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:  Находка:  ТчкВрм:  ^Пациент:  Опис:  

RELATED NAMES
  Asympt Interp P prime
  Asymptomatic Interpret Point in time
  Clinical events Interpt Random
  Finding Intrp Report
  Findings Narrative Scn
  H+P New born  
  H+P.HX Other Inf factors affecting NBS imp  
  Inf factors affecting NBS imp Othr  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Other infant factors that affect newborn screening interpretation Narrative
  Shortname: Other Inf factors affecting NBS imp
  Fully Specified Name: Other infant factors that affect newborn screening interpretation: Find: Pt: ^Patient: Nar:
     
  Component Word Count: 9
  ID: 63456
  Status (Raw): ACTIVE


67706-2   Maternal factors that affect newborn screening interpretationMaternal factors that affect newborn screening interpretationMaternal factors that affect newborn screening interpretation: Find: Pt: ^Mother: Nom:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Maternal factors that affect newborn screening interpretation  Find  Pt  ^Mother  Nom 
  Long Common Name:  Maternal factors that affect newborn screening interpretation
  Shortname:  Mat factors affecting NBS imp

TERM DEFINITION/DESCRIPTION(S)
  Use this term to record various maternal factors (also known as events), including treatments applied to the newborn's mother or conditions that affect the newborn's mother, that can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other maternal factors that affect newborn screening interpretation" to give additional details. Thyroid treatments (PTU - propylthiouracil, methimazole (tapazole), and radioactive iodine (I-131)) can affect NBS results for T4 and TSH. Steroid treatment (prednisone, betamethasone, dexamethasone) can affect NBS results for 17-OHP. Fatty liver of pregnancy and HELLP syndrome can affect NBS results for acylcarnitines. TPN can affect NBS results for amino acids and fatty acids. PRBC (packed red blood cell) transfusion can affect NBS results for GALT and hemoglobin. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
 
 

ANSWER CARDINALITY
0..*

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: H&P.HX/Clinical
  First Released in Version: 2.38
  Last Updated in Version: 2.56
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

PREFERRED ANSWER LIST    (LL1736-9)  
 
Source: National Library of Medicine
  SEQ#        Answer        Answer ID    
  1       None
SNOMEDCT ©: 260413007 None (qualifier value)    
  LA137-2  
  2       HELLP syndrome       LA16928-6  
  3       Fatty liver of pregnancy       LA16929-4  
  4       Packed red blood cell (PRBC) transfusion       LA16930-2  
  5       Steroid treatment       LA16931-0  
  6       Thyroid treatment (including propylthiouracil (PTU), methimazole (Tapazole), or past treatment with radioactive iodine (I-131))       LA16932-8  
  7       TPN       LA12418-2  
  8       Other       LA46-8  

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP133647-0  Maternal factors that affect newborn screening interpretation 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6983-3  Mother 
Scale   LP7750-5  Nom 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP34059-3  Screening 
Fragments for synonyms   LP75922-2  P' 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  影响新生儿筛查解释的产妇因素:  发现:  时间点:  ^母亲:  名义型:  影响新生儿筛查解释的产妇因素:  发现:  时间点:  ^母亲:  名义型:  影响新生儿筛查解释的产妇因素:  发现:  时间点:  ^母亲:  名义型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Fattori materni che influenzano l'interpretazione di screening neonatale:  Osservazione:  Pt:  ^madre:  Nom:  Fattori materni che influenzano l'interpretazione di screening neonatale:  Osservazione:  Pt:  ^madre:  Nom:  Fattori materni che influenzano l'interpretazione di screening neonatale:  Osservazione:  Pt:  ^madre:  Nom:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Мать факторы, которые влияют на новорождённый скрининг интерпретация:  Находка:  ТчкВрм:  ^Мать:  Ном:  Мать факторы, которые влияют на новорождённый скрининг интерпретация:  Находка:  ТчкВрм:  ^Мать:  Ном:  Мать факторы, которые влияют на новорождённый скрининг интерпретация:  Находка:  ТчкВрм:  ^Мать:  Ном:  

RELATED NAMES
  Asympt Interpret Nominal
  Asymptomatic Interpt P prime
  Clinical events, mother Intrp Point in time
  Finding Mat Random
  Findings Mat factors affecting NBS imp Scn
  H+P Maternal  
  H+P.HX Matnl  
  Interp New born  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Maternal factors that affect newborn screening interpretation
  Shortname: Mat factors affecting NBS imp
  Fully Specified Name: Maternal factors that affect newborn screening interpretation: Find: Pt: ^Mother: Nom:
     
  Component Word Count: 7
  ID: 63459
  Status (Raw): ACTIVE


67707-0   Other maternal factors that affect newborn screening interpretation NarrativeOther maternal factors that affect newborn screening interpretation NarrativeOther maternal factors that affect newborn screening interpretation: Find: Pt: ^Mother: Nar:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Other maternal factors that affect newborn screening interpretation  Find  Pt  ^Mother  Nar 
  Long Common Name:  Other maternal factors that affect newborn screening interpretation Narrative
  Shortname:  Other mat factors affecting NBS imp

CONDITION FOR INCLUSION
Use this term to give additional detail if you select answer “Other” (LA46-8) for Maternal factors that affect newborn screening interpretation (67706-2).

ANSWER CARDINALITY
0..*

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: H&P.HX/Clinical
  First Released in Version: 2.38
  Last Updated in Version: 2.48
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS
  54089-8   Newborn screening panel American Health Information Community (AHIC)Newborn screening panel American Health Information Community (AHIC)Newborn screening panel: -: Pt: ^Patient: -: AHIC

PARTS

Part Type    Part No.  Part Name   
Component   LP133648-8  Other maternal factors that affect newborn screening interpretation 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6983-3  Mother 
Scale   LP7749-7  Nar 
Fragments for synonyms   LP91459-5  newborn 
Fragments for synonyms   LP75922-2  P' 
Fragments for synonyms   LP21049-9  Other 
Fragments for synonyms   LP34059-3  Screening 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Bethune International Peace Hospital)
 
  影响新生儿筛查解释的其他产妇因素:  发现:  时间点:  ^母亲:  叙述型:  影响新生儿筛查解释的其他产妇因素:  发现:  时间点:  ^母亲:  叙述型:  影响新生儿筛查解释的其他产妇因素:  发现:  时间点:  ^母亲:  叙述型:  
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Altri fattori materni che influenzano interpretazione screening neonatale:  Osservazione:  Pt:  ^madre:  Nar:  Altri fattori materni che influenzano interpretazione screening neonatale:  Osservazione:  Pt:  ^madre:  Nar:  Altri fattori materni che influenzano interpretazione screening neonatale:  Osservazione:  Pt:  ^madre:  Nar:  
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Другие мать факторы, которые влияют на новорождённый скрининг интерпретация:  Находка:  ТчкВрм:  ^Мать:  Опис:  Другие мать факторы, которые влияют на новорождённый скрининг интерпретация:  Находка:  ТчкВрм:  ^Мать:  Опис:  Другие мать факторы, которые влияют на новорождённый скрининг интерпретация:  Находка:  ТчкВрм:  ^Мать:  Опис:  

RELATED NAMES
  Asympt Interpt Othr
  Asymptomatic Intrp P prime
  Clinical events, mother Mat Point in time
  Finding Mat factors affecting NBS imp Random
  Findings Maternal Report
  H+P Matnl Scn
  H+P.HX Narrative  
  Interp New born  
  Interpret Other Mat factors affecting NBS imp  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Attachment Units Required: N
  Long Common Name: Other maternal factors that affect newborn screening interpretation Narrative
  Shortname: Other mat factors affecting NBS imp
  Fully Specified Name: Other maternal factors that affect newborn screening interpretation: Find: Pt: ^Mother: Nar:
     
  Component Word Count: 8
  ID: 63508
  Status (Raw): ACTIVE


77739-1   Mother's Hepatitis B virus surface Ag statusMother's Hepatitis B virus surface Ag statusHepatitis B virus surface Ag: PrThr: Pt: ^Mother: Ord:  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
Hepatitis B virus surface Ag  PrThr  Pt  ^Mother  Ord 
  Long Common Name:  Mother's Hepatitis B virus surface Ag status
  Shortname:  Mother's HBV surface Ag Ql

TERM DEFINITION/DESCRIPTION(S)
  This term should be used to report the birth mother's Hepatitis B surface antigen status.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Hepatitis B virus surface
  The hepatitis B surface antigen (HBsAg) is most frequently used to screen for the presence of this infection. It is the first detectable viral antigen to appear during infection. However, early in an infection, this antigen may not be present and it may be undetectable later in the infection as it is being cleared by the host. The infectious virion contains an inner "core particle" enclosing viral genome. The icosahedral core particle is made of 180 or 240 copies of core protein, alternatively known as hepatitis B core antigen, or HBcAg. During this 'window' in which the host remains infected but is successfully clearing the virus, IgM antibodies to the hepatitis B core antigen (anti-HBc IgM) may be the only serological evidence of disease. Therefore most hepatitis B diagnostic panels contain HBsAg and total anti-HBc(both IgM and IgG).
  Copyright: Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
 
 

CONDITION FOR INCLUSION
This term should be used in the context of the card data panel if maternal Hep B surface Ag result is included on the DBS card

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MICRO/Lab
  First Released in Version: 2.52
  Last Updated in Version: 2.56
  Order vs. Obs.: Both
  Status: Active.
Change Reason: The PrThr property is used for LOINC terms whose