Newborn Screening Codes

This page lists recent additions and changes to the Newborn Screening Coding and Terminology Guide.

Updated LOINC Newborn Screening AHIC panel 54089-8 (January 19, 2016)

LOINC version 2.54 includes 2 new conditions (MPS I and X-ALD) and their associated tests; new codes for Collection Method - dried blood spot, and Blood Product Given; and revised answer lists for feeding types, infant NICU factors that affect newborn screening results, and interpretations of dried blood spot screening results.

Condition Hb beta zero-thalassemia (Hb F only): revised mapping to Measurements
Condition Hb C beta-thalassemia (Hb F,C,A): revised mapping to Measurements
Condition Hb C-carrier (Hb F,A,C): revised mapping to Measurements
Condition Hb C-disease (Hb F,C): revised mapping to Measurements
Condition Hb carrier other than C,D,E,S,O-Arab (Hb F,A and other than C,D,E,S,O-Arab): revised mapping to Measurements
Condition Hb D beta-thalassemia (Hb F,D,A): revised mapping to Measurements
Condition Hb D-carrier (Hb F,A,D): revised mapping to Measurements
Condition Hb disease other than A,C,D,E,F,H,O-Arab,S (Hb F, and other than A,C,D,E,F,H,O-Arab,S): revised mapping to Measurements
Condition Hb E beta-thalassemia (Hb F,E,A): revised mapping to Measurements
Condition Hb E-carrier (Hb F,A,E): revised mapping to Measurements
Condition Hb E-disease (Hb F,E): revised mapping to Measurements
Condition Hb H-disease (Hb F,H): revised mapping to Measurements
Condition Hb S (sickle)-carrier (Hb F,A,S): revised mapping to Measurements
Condition Hb S beta-thalassemia (Hb F,S,A): revised mapping to Measurements
Condition Hb S O-Arab disease (Hb F,S,O-Arab): revised mapping to Measurements
Condition Hb S Other than A,C,D,E,O-Arab (Hb F,S and other than A,C,D,E,O-Arab): revised mapping to Measurements
Condition Hb SC-disease (Hb F,S,C): revised mapping to Measurements
Condition Hb SD-disease (Hb F,S,D): revised mapping to Measurements
Condition Hb SE-disease (Hb F,S,E): revised mapping to Measurements
Condition Hb SS-disease (sickle cell anemia) (Hb F,S): revised mapping to Measurements
Condition Mucopolysaccharidosis (MPS I): New record
Condition X-linked Adrenoleukodystrophy (X-ALD): New record
Measurement ABCD1 gene mutation analysis (ABCD1): New record
Measurement Alpha-L-iduronidase (IDUA) (IDUA): New record
Measurement Amino acidemias newborn screen interpretation: revised Answer list
Measurement Biotinidase deficiency newborn screen interpretation: revised Answer list
Measurement Congenital adrenal hyperplasia newborn screen interpretation: revised Answer list
Measurement Congenital hypothyroidism newborn screen interpretation: revised Answer list
Measurement Cystic fibrosis newborn screen interpretation: revised Answer list
Measurement Fatty acid oxidation defects newborn screen interpretation: revised Answer list
Measurement Galactosemias newborn screen interpretation: revised Answer list
Measurement Hemoglobin disorders newborn screen interpretation: revised Answer list
Measurement Hemoglobin pattern by Electrophoresis: Record removed
Measurement Hemoglobin pattern by HPLC: Record removed
Measurement Hemoglobin pattern by Isoelectric focusing: Record removed
Measurement Lysophosphatidylcholine (C26:0) (C26:0-LPC): New record
Measurement Lysophosphatidylcholine (C26:0) - HPLC (C26:0-LPC-HPLC): New record
Measurement Mucopolysaccharidosis type I interpretation (MPS I): New record
Measurement Organic acidemias newborn screen interpretation: revised Answer list

Updated UMLS to Release 2015AB (January 19, 2016)

Condition beta-Ketothiolase deficiency (BKT): revised UMLS CUI
Condition Carnitine palmitoyltransferase I deficiency (CPT-Ia): revised UMLS CUI
Condition Hyperprolinemia type II (PRO II): revised UMLS CUI
Condition Maternal 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC (mat)): revised UMLS CUI
Condition Maternal carnitine uptake defect (CUD (mat)): revised UMLS CUI
Condition Maternal glutaric acidemia type I (GA-1 (mat)): revised UMLS CUI
Condition Methylmalonic acidemia (MUT): revised UMLS CUI
Condition Methylmalonic aciduria and homocystinuria (CBL C): revised UMLS CUI
Condition Pyroglutamic acidemia (5-OXO): revised UMLS CUI
Condition Secondary Congenital Hypothyroidism (CH2): revised UMLS CUI
Condition Trifunctional protein deficiency (TFP): revised UMLS CUI
Condition Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD): revised UMLS CUI

Updated Information for 2 Conditions (November 2, 2015)

Condition Critical congenital heart disease (CCHD): added SNOMED CT code, UMLS CUI, ICD-9-CM code, ICD-10-CM code
Condition Dihydrolipoamide dehydrogenase deficiency (E3): revised Category

Revised HL7 Annotated Example Message (version 6) (September 4, 2014)

An updated example newborn screening results message that illustrates how to use the HL7 standard (version 2.5.1) and universal LOINC, SNOMED CT, and UCUM codes.

Updated LOINC Newborn Screening AHIC panel 54089-8 (August 26, 2014)

LOINC version 2.48

Condition 2-Methyl-3-hydroxybutyric aciduria (2M3HBA): added UMLS CUI
Condition Argininemia (ARG): revised mapping to Measurements
Condition Biotinidase Deficiency (BIO): revised mapping to Measurements
Condition Carbamoyl-phosphate synthase deficiency (CPS): revised mapping to Measurements
Condition Carnitine uptake defect (CUD): revised mapping to Measurements
Condition Ethylmalonic encephalopathy (EMA): added UMLS CUI
Condition Girate atrophy of the retina (Hyper ORN): revised mapping to Measurements
Condition Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome (HHH): revised mapping to Measurements
Condition Malonic acidemia (MAL): revised mapping to Measurements
Condition Ornithine transcarbamylase deficiency (OTC): revised mapping to Measurements
Measurement Arginine/Ornithine (ARG / ORN): New record
Measurement Biotinidase [Enzymatic activity/volume] (BIO): New record
Measurement Biotinidase [Presence] (BIO (presence)): added Units; revised Short Name, Name
Measurement Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) (C5DC / C3DC): New record
Measurement Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) ([C3DC + C4OH] / C10): New record
Measurement Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) (C3DC / C10): New record
Measurement Ornithine/Citrulline (ORN / CIT): New record
Measurement Propionylcarnitine (C3)+Palmitoylcarnitine (C16) (C3 + C16): New record

Corrected XML data file (February 19, 2014)

Corrected newbornscreeningcodes.xml to eliminate duplicate "xml-file-key" values. Added a corresponding constraint to the XML schema.

Updated HL7 page (January 7, 2014)

Added raw HL7 NBS example message based on LOINC version 2.46. Updated information about the PHII NBS laboratory order and result implementation guides. Changed the link for the LOINC NBS panel downloads to allow both .pdf and spreadsheet download directly from the LOINC website.

Raw HL7 NBS example message

Updated LOINC Newborn Screening AHIC panel 54089-8 (January 7, 2014)

LOINC version 2.46

Measurement Phenylalanine (PHE): revised Units

Updated LOINC Newborn Screening AHIC panel 54089-8 (July 30, 2013)

LOINC version 2.44

Measurement CCHD newborn screening interpretation: added LOINC code, Answer list
Measurement CCHD newborn screening protocol used (CCHD protocol): added LOINC code
Measurement Difference between preductal and postductal saturation (Pre-post difference): added LOINC code
Measurement Postductal (either foot) oxygen saturation (Postductal O2 sat): added LOINC code
Measurement Preductal (right hand) oxygen saturation (Preductal O2 sat): added LOINC code

Expansion of the recommended uniform screening panel to include CCHD (April 30, 2013)

The Health and Human Services Secretary adopted the Committee's recommendation to add critical congenital heart disease (CCHD) to the recommended uniform screening panel.

HHS Adds Critical Congenital Heart Disease to Recommended Uniform Screening Panel
Condition Critical congenital heart disease (CCHD): New record
Measurement CCHD newborn screening interpretation: New record
Measurement CCHD newborn screening protocol used (CCHD protocol): New record
Measurement Difference between preductal and postductal saturation (Pre-post difference): New record
Measurement Postductal (either foot) oxygen saturation (Postductal O2 sat): New record
Measurement Preductal (right hand) oxygen saturation (Preductal O2 sat): New record

Updated UMLS to Release 2012AB (April 30, 2013)

Condition Hb H-disease (Hb F,H): revised UMLS CUI

Updated LOINC Newborn Screening AHIC panel 54089-8 (October 4, 2012)

LOINC version 2.40

Condition Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD): revised mapping to Measurements
Measurement Amino acidemias newborn screen interpretation: revised Answer list
Measurement Biotinidase deficiency newborn screen interpretation: revised Answer list
Measurement Congenital adrenal hyperplasia newborn screen interpretation: revised Answer list
Measurement Congenital hypothyroidism newborn screen interpretation: revised Answer list
Measurement Cystic fibrosis newborn screen interpretation: revised Answer list
Measurement Fatty acid oxidation defects newborn screen interpretation: revised Answer list
Measurement Galactosemias newborn screen interpretation: revised Answer list
Measurement Hemoglobin disorders newborn screen interpretation: revised Answer list
Measurement Organic acidemias newborn screen interpretation: revised Answer list
Measurement Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) (C14:1 / C14): New record
Measurement Trypsinogen I Free (IRT): revised Units

Introduced XML data file (November 7, 2011)

The database of conditions, related analytes, and references to clinical medical terminologies has been made available as an XML data file for data-processing use.

Downloads

Revised HL7 Annotated Example Message (version 5.2) (November 1, 2011)

An updated example newborn screening results message that illustrates how to use the HL7 standard (version 2.5.1) and universal LOINC, SNOMED CT, and UCUM codes.

Revised condition description (November 1, 2011)

Condition Niemann Pick disease A/B (ASM): revised description

Updated LOINC Newborn Screening AHIC panel 54089-8 (November 1, 2011)

LOINC version 2.36 plus updates that will be available in the December 2011 LOINC release (version 2.37)

Measurement Acid alpha glucosidase (GAA): revised Name
Measurement Acid beta glucosidase (GBA): revised Name
Measurement Acid sphingomyelinase (ASM): revised Name
Measurement Alpha galactosidase A (GLA): revised Name

Revised HL7 Annotated Example Message (October 13, 2011)

Constructing Newborn Screening HL7 Messages: Annotated example NBS HL7 message (Version Number 5.1)

Updated Enzyme Code (September 19, 2011)

Condition Short-chain acyl-CoA dehydrogenase deficiency (SCAD): revised Enzyme Commission number

New SNOMED codes from the US Extension to SNOMED CT (September 19, 2011)

Condition 2-Methyl-3-hydroxybutyric aciduria (2M3HBA): revised SNOMED CT code; removed UMLS CUI
Condition Ethylmalonic encephalopathy (EMA): added SNOMED CT code

Harmonized analyte names with LOINC (September 19, 2011)

Measurement Congenital hypothyroidism newborn screen interpretation: revised Name
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) (C5DC + C6OH): revised Name
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) (C5DC + C6OH / C8): revised Name
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) (C5DC + C6OH / C16): revised Name
Measurement Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) (C3DC + C4OH): revised Name
Measurement Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) (C4DC + C5OH): revised Name

Added non-derivatized MS/MS analytes and mapped to targeted conditions (August 3, 2011)

The non-derivatized (underivatized) tandem mass spectrometry (MS/MS) test kit method uses 5 new analytes (including 2 ratios) that target newborn screening conditions.

Condition 3-Hydroxy-3-methylglutaric aciduria (HMG): revised mapping to Measurements
Condition 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC): revised mapping to Measurements
Condition 3-Methylglutaconic aciduria (3MGA): revised mapping to Measurements
Condition Glutaric acidemia type I (GA-1): revised mapping to Measurements
Condition Malonic acidemia (MAL): revised mapping to Measurements
Condition Multiple carboxylase deficiency (MCD): revised mapping to Measurements
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) (C5DC + C6OH): New record
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) (C5DC + C6OH / C8): New record
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) (C5DC + C6OH / C16): New record
Measurement Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) (C3DC + C4OH): New record
Measurement Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) (C4DC + C5OH): New record

Revised the LOINC AHIC newborn screening panel (August 3, 2011)

Added new codes for analytes and ratios for non-derivatized tandem mass spectrometry testing. In the card data panel, added questions and answer lists for feeding types, and infant and maternal factors that affect newborn screening interpretation.

Measurement Phenylalanine (PHE): revised Units

Revised HL7 Annotated Example Message (May 25, 2011)

Constructing Newborn Screening HL7 Messages: Annotated example NBS HL7 message (Version Number 5)

Updated LOINC Newborn Screening AHIC panel 54089-8 (May 25, 2011)

LOINC version 2.34 plus updates that will be available in the June 2011 LOINC release

Condition Hb C-carrier (Hb F,A,C): revised mapping to Measurements
Condition Hb C-disease (Hb F,C): revised mapping to Measurements
Condition Hb carrier other than C,D,E,S,O-Arab (Hb F,A and other than C,D,E,S,O-Arab): revised mapping to Measurements
Condition Hb D beta-thalassemia (Hb F,D,A): revised mapping to Measurements
Condition Hb D-carrier (Hb F,A,D): revised mapping to Measurements
Condition Hb disease other than A,C,D,E,F,H,O-Arab,S (Hb F, and other than A,C,D,E,F,H,O-Arab,S): revised mapping to Measurements
Condition Hb E beta-thalassemia (Hb F,E,A): revised mapping to Measurements
Condition Hb E-carrier (Hb F,A,E): revised mapping to Measurements
Condition Hb E-disease (Hb F,E): revised mapping to Measurements
Condition Hb H-disease (Hb F,H): revised mapping to Measurements
Condition Hb O-Arab carrier (Hb F,A,O-Arab): added mapping to Measurements
Condition Hb S (sickle)-carrier (Hb F,A,S): revised mapping to Measurements
Condition Hb S beta-thalassemia (Hb F,S,A): revised mapping to Measurements
Condition Hb S O-Arab disease (Hb F,S,O-Arab): revised mapping to Measurements
Condition Hb S Other than A,C,D,E,O-Arab (Hb F,S and other than A,C,D,E,O-Arab): revised mapping to Measurements
Condition Hb SC-disease (Hb F,S,C): revised mapping to Measurements
Condition Hb SD-disease (Hb F,S,D): revised mapping to Measurements
Condition Hb SE-disease (Hb F,S,E): revised mapping to Measurements
Condition Hb SS-disease (sickle cell anemia) (Hb F,S): revised mapping to Measurements
Measurement Amino acidemias newborn screen interpretation: revised Answer list
Measurement Biotinidase deficiency newborn screen interpretation: revised Answer list
Measurement Congenital adrenal hyperplasia newborn screen interpretation: revised Answer list
Measurement Congenital hypothyroidism newborn screen interpretation: revised Answer list
Measurement Cystic fibrosis newborn screen interpretation: revised Answer list
Measurement Fatty acid oxidation defects newborn screen interpretation: revised Answer list
Measurement Fifth most predominant hemoglobin (5th most predominant Hb DBS): New record
Measurement Fourth most predominant hemoglobin (4th most predominant Hb DBS): New record
Measurement Galactose (Galact): revised Name
Measurement Galactosemias newborn screen interpretation: revised Answer list
Measurement Hearing loss newborn screen interpretation: Record removed
Measurement Hemoglobin observations newborn screening panel (Hb observations NBS pnl DBS): New record
Measurement Hemoglobins that can be presumptively identified based on available controls (Hb pres ID based on avail contr DBS): New record
Measurement Most predominant hemoglobin (Most predominant Hb DBS): New record
Measurement Organic acidemias newborn screen interpretation: revised Answer list
Measurement Second most predominant hemoglobin (2nd most predominant Hb DBS): New record
Measurement Third most predominant hemoglobin (3rd most predominant Hb DBS): New record

Removal of analytes not relevant to newborn screening (April 20, 2011)

Measurement Decatrienoylcarnitine (C10:3): Record removed
Measurement Dehydrosebacylcarnitine (C10:1-DC): Record removed
Measurement Dehydrosuberylcarnitine (C8:1-DC): Record removed
Measurement Dicarboxydodecanoylcarnitine (C12-DC): Record removed
Measurement Dicarboxydodecenoylcarnitine (C12:1-DC): Record removed
Measurement Dicarboxyoleylcarnitine (C18:1-DC): Record removed
Measurement Dicarboxypalmitoleylcarnitine (C16:1-DC): Record removed
Measurement Dicarboxypalmitoylcarnitine (C16-DC): Record removed
Measurement Dicarboxystearoylcarnitine (C18-DC): Record removed
Measurement Dicarboxytetradecanoylcarnitine (C14:1-DC): Record removed
Measurement Dicarboxytetradecenoylcarnitine (C14-DC): Record removed
Measurement Heptanoylcarnitine (C7): Record removed
Measurement Hexenoylcarnitine (C6:1): Record removed
Measurement Nonanoylcarnitine (C9): Record removed
Measurement Phenylacetylcarnitine (PheC2): Record removed
Measurement Salicylylcarnitine (SalC): Record removed
Measurement Sebacylcarnitine (C10-DC): Record removed
Measurement Suberylcarnitine (C8-DC): Record removed

Clarified Congenital Adrenal Hyperplasias (April 20, 2011)

Condition Congenital Adrenal Hyperplasia (11-beta monooxygenase) (CAH (11B-OHD)): revised Abbreviation, Name, description
Condition Congenital Adrenal Hyperplasia (non-classical) (CAH (NC)): revised Abbreviation, description
Condition Congenital Adrenal Hyperplasia (salt-wasting) (CAH (SW)): revised Abbreviation, description
Condition Congenital Adrenal Hyperplasia (simple virilizing) (CAH (SV)): revised Abbreviation, description

Additional conditions (April 20, 2011)

Condition Fabry disease (GLA): New record
Condition Gaucher disease (GBA): New record
Condition Krabbe disease (GALC): New record
Condition Niemann Pick disease A/B (ASM): New record
Condition Pompe disease (GAA): New record
Measurement Acid alpha glucosidase (GAA): New record
Measurement Acid beta glucosidase (GBA): New record
Measurement Acid sphingomyelinase (ASM): New record
Measurement Alpha galactosidase A (GLA): New record
Measurement Galactocerebrosidase (GALC): New record

Revisions from LOINC (April 20, 2011)

Condition Severe combined immunodeficiency (SCID): added mapping to Measurements
Measurement 11-Deoxycorticosterone (11DOC): revised Units
Measurement 11-Deoxycortisol (11DC): revised Units
Measurement 17-Hydroxyprogesterone+Androstenedione/Cortisol (17OCHS+Androst/Cortis): added Units
Measurement 21-Deoxycortisol (21DC): revised Units
Measurement 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) (C5OH / C0): added Units
Measurement 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) (C5OH / C8): added Units
Measurement 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) (C8OH + C3DC / C4): added Units
Measurement 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) (C8OH + C3DC / C10): added Units
Measurement 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) (C16OH / C16): added Units
Measurement 5-Oxoproline+Pipecolate/Phenylalanine ([OXOPRO + PIPA] / PHE): added Units
Measurement Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine ([AILE + ILE + LEU + OHPRO + VAL] / [PHE + TYR]): added Units
Measurement Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine ([AILE + ILE + LEU + OHPRO] / ALA): added Units
Measurement Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine ([AILE + ILE + LEU + OHPRO] / PHE): added Units
Measurement Amino acidemias newborn screen interpretation: added Answer list
Measurement Androstenedione (Androst): revised Units
Measurement Arginine/Phenylalanine (ARG / PHE): added Units
Measurement Argininosuccinate/Arginine (ASA / ARG): added Units
Measurement Asparagine+Ornithine/Phenylalanine ([ASN + ORN] / PHE): added Units
Measurement Asparagine+Ornithine/Serine ([ASN + ORN] / SER): added Units
Measurement Biotinidase deficiency newborn screen interpretation: added Answer list
Measurement Biotinidase [Presence] (BIO (presence)): removed Units
Measurement Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (C4 / C2): added Units
Measurement Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (C4 / C8): added Units
Measurement Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (C4 / C3): added Units
Measurement Carnitine free (C0)/Palmitoylcarnitine (C16) (C0 / C16): added Units
Measurement Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) (C0 / [C16 + C18]): added Units; revised Name
Measurement Carnitine free (C0)/Stearoylcarnitine (C18) (C0 / C18): added Units
Measurement Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline ([C0 + C2 + C3 + C16 + C18:1 + C18] / CIT): added Units
Measurement Citrulline/Arginine (CIT/ARG): added Units
Measurement Citrulline/Phenylalanine (CIT / PHE): added Units
Measurement Citrulline/Tyrosine (CIT / TYR): added Units
Measurement Congenital adrenal hyperplasia newborn screen interpretation: added Answer list
Measurement Congenital hypothyroidism newborn screen interpretation: added Answer list
Measurement Cortisol (Cortis): revised Units
Measurement Cystic fibrosis newborn screen interpretation: added Answer list
Measurement Fatty acid oxidation defects newborn screen interpretation: added Answer list
Measurement Galactose 1 phosphate uridyl transferase (Gal1PUT DBS-cCnc): revised Units
Measurement Galactosemias newborn screen interpretation: added Answer list
Measurement Glutarylcarnitine (C5-DC) (C5DC): revised Units
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) (C5DC + C10OH / C5OH): added Units
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) (C5DC + C10OH / C4): added Units
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) (C5DC + C10OH / C8): added Units
Measurement Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) (C5DC + C10OH / C16): added Units
Measurement Hemoglobin Barts/Hemoglobin.total (%Hb Bart's): revised Name
Measurement Hemoglobin pattern by Electrophoresis: revised Answer list
Measurement Hemoglobin pattern by HPLC: revised Answer list
Measurement Hemoglobin pattern by Isoelectric focusing: revised Answer list
Measurement Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) (C5 / C2): added Units
Measurement Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) (C5 / C0): added Units
Measurement Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) (C5 / C8): added Units
Measurement Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) (C5 / C3): added Units
Measurement Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (MET / [AILE + ILE + LEU + OHPRO]): added Units
Measurement Methionine/Phenylalanine (MET / PHE): added Units
Measurement Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) (C4DC / C5OH): added Units
Measurement Octanoylcarnitine (C8)/Acetylcarnitine (C2) (C8 / C2): added Units
Measurement Octanoylcarnitine (C8)/Decanoylcarnitine (C10) (C8 / C10): added Units
Measurement Organic acidemias newborn screen interpretation: added Answer list
Measurement Phenylalanine/Tyrosine (PHE / TYR): added Units
Measurement Proline/Phenylalanine (PRO / PHE): added Units
Measurement Propionylcarnitine (C3)/Acetylcarnitine (C2) (C3 / C2): added Units
Measurement Propionylcarnitine (C3)/Carnitine.free (C0) (C3 / C0): added Units
Measurement Propionylcarnitine (C3)/Methionine (C3 / MET): added Units
Measurement Propionylcarnitine (C3)/Palmitoylcarnitine (C16) (C3 / C16): added Units
Measurement Stearoylcarnitine (C18)/Propionylcarnitine (C3) (C18 / C3): added Units
Measurement T-cell receptor excision circle (TREC): New record
Measurement Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) (C14:1 / C2): added Units
Measurement Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) (C14:1 / C12:1): added Units
Measurement Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) (C14:1 / C16): added Units
Measurement Thyrotropin (TSH): revised Units
Measurement Thyroxine (T4) (T4): revised Name
Measurement Valine/Phenylalanine (VAL/PHE): added Units

Revised SNOMED CT (UMLS release 2010AB) and ICD codes (April 20, 2011)

Condition 2,4-Dienoyl-CoA reductase deficiency (De-Red): added SNOMED CT code, ICD-9-CM code, ICD-10-CM code
Condition 2-Methyl-3-hydroxybutyric aciduria (2M3HBA): added SNOMED CT code; revised UMLS CUI
Condition 2-Methylbutyrylglycinuria (2MBG): added SNOMED CT code; revised UMLS CUI
Condition 3-Hydroxy-3-methylglutaric aciduria (HMG): revised SNOMED CT code, UMLS CUI, ICD-10-CM code
Condition 3-Methylglutaconic aciduria (3MGA): revised SNOMED CT code, UMLS CUI
Condition Carbamoyl-phosphate synthase deficiency (CPS): revised Name, SNOMED CT code, UMLS CUI, ICD-10-CM code, description
Condition Carnitine palmitoyltransferase I deficiency (CPT-Ia): revised ICD-10-CM code
Condition Carnitine palmitoyltransferase II deficiency (CPT-II): revised ICD-10-CM code
Condition Carnitine uptake defect (CUD): revised ICD-9-CM code
Condition Carnitine-acylcarnitine translocase deficiency (CACT): revised ICD-9-CM code
Condition Ethylmalonic encephalopathy (EMA): revised ICD-9-CM code, ICD-10-CM code; removed UMLS CUI
Condition Girate atrophy of the retina (Hyper ORN): revised SNOMED CT code, UMLS CUI, ICD-9-CM code
Condition Glucose-6-phosphate dehydrogenase deficiency (G6PD): revised SNOMED CT code, UMLS CUI
Condition Glutaric acidemia type I (GA-1): revised ICD-9-CM code
Condition Hb beta zero-thalassemia (Hb F only): added SNOMED CT code; revised UMLS CUI
Condition Hb C beta-thalassemia (Hb F,C,A): added SNOMED CT code
Condition Hb C-carrier (Hb F,A,C): added SNOMED CT code
Condition Hb C-disease (Hb F,C): added SNOMED CT code
Condition Hb carrier other than C,D,E,S,O-Arab (Hb F,A and other than C,D,E,S,O-Arab): added SNOMED CT code
Condition Hb D beta-thalassemia (Hb F,D,A): added SNOMED CT code; revised UMLS CUI
Condition Hb D-carrier (Hb F,A,D): added SNOMED CT code
Condition Hb disease other than A,C,D,E,F,H,O-Arab,S (Hb F, and other than A,C,D,E,F,H,O-Arab,S): added SNOMED CT code
Condition Hb E beta-thalassemia (Hb F,E,A): added SNOMED CT code
Condition Hb E-carrier (Hb F,A,E): added SNOMED CT code
Condition Hb E-disease (Hb F,E): added SNOMED CT code
Condition Hb H-disease (Hb F,H): added SNOMED CT code
Condition Hb S (sickle)-carrier (Hb F,A,S): added SNOMED CT code; revised ICD-9-CM code
Condition Hb S beta-thalassemia (Hb F,S,A): added SNOMED CT code; revised UMLS CUI, ICD-9-CM code, ICD-10-CM code
Condition Hb S O-Arab disease (Hb F,S,O-Arab): added SNOMED CT code; revised ICD-9-CM code, ICD-10-CM code
Condition Hb S Other than A,C,D,E,O-Arab (Hb F,S and other than A,C,D,E,O-Arab): added SNOMED CT code; revised UMLS CUI, ICD-9-CM code, ICD-10-CM code
Condition Hb SC-disease (Hb F,S,C): added SNOMED CT code; revised ICD-9-CM code, ICD-10-CM code
Condition Hb SD-disease (Hb F,S,D): added SNOMED CT code; revised ICD-9-CM code, ICD-10-CM code
Condition Hb SE-disease (Hb F,S,E): added SNOMED CT code; revised ICD-9-CM code, ICD-10-CM code
Condition Hb SS-disease (sickle cell anemia) (Hb F,S): added SNOMED CT code; revised ICD-9-CM code, ICD-10-CM code
Condition Hearing Loss (HEAR): revised ICD-10-CM code
Condition Histidinemia (HIS): revised SNOMED CT code
Condition Homocystinuria (HCY): revised SNOMED CT code, UMLS CUI
Condition Homocystinuria-megaloblastic anemia (CBL G): revised SNOMED CT code, UMLS CUI
Condition Human immunodeficiency virus (HIV): revised SNOMED CT code, UMLS CUI
Condition Hydroxyprolinemia (OH PRO): revised ICD-9-CM code
Condition Hyperlysinemia (Hyper LYS): revised ICD-9-CM code
Condition Hypermethioninemia (MET): revised SNOMED CT code, UMLS CUI
Condition Isobutyrylglycinuria (IBG): added SNOMED CT code; revised UMLS CUI
Condition Long-chain L-3-Hydroxy acyl-CoA dehydrogenase deficiency (LCHAD): revised SNOMED CT code, UMLS CUI, ICD-10-CM code
Condition Malonic acidemia (MAL): revised ICD-9-CM code
Condition Maternal 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC (mat)): revised SNOMED CT code, UMLS CUI, ICD-9-CM code, ICD-10-CM code
Condition Maternal carnitine uptake defect (CUD (mat)): revised SNOMED CT code, UMLS CUI, ICD-9-CM code, ICD-10-CM code
Condition Maternal glutaric acidemia type I (GA-1 (mat)): revised SNOMED CT code, UMLS CUI, ICD-9-CM code, ICD-10-CM code
Condition Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT): added ICD-9-CM code, ICD-10-CM code
Condition Methylcobalamin deficiency (CBL E): added ICD-9-CM code, ICD-10-CM code; revised SNOMED CT code, UMLS CUI
Condition Methylmalonic acidemia (CBL A): revised ICD-9-CM code
Condition Methylmalonic acidemia (CBL B): revised ICD-9-CM code
Condition Methylmalonic acidemia (MUT): revised ICD-9-CM code
Condition Methylmalonic aciduria and homocystinuria (CBL C): revised ICD-9-CM code
Condition Methylmalonic aciduria and homocystinuria (CBL D): revised ICD-9-CM code
Condition Multiple carboxylase deficiency (MCD): added ICD-9-CM code; revised SNOMED CT code, ICD-10-CM code
Condition Primary Congenital Hypothyroidism (CH): revised ICD-9-CM code
Condition Propionic acidemia (PROP): revised ICD-9-CM code
Condition Secondary Congenital Hypothyroidism (CH2): revised ICD-9-CM code
Condition Severe combined immunodeficiency (SCID): revised ICD-10-CM code
Condition Short-chain acyl-CoA dehydrogenase deficiency (SCAD): revised ICD-9-CM code
Condition Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (SCHAD): added ICD-10-CM code; revised ICD-9-CM code
Condition Succinyl-CoA ligase deficiency (SUCLA2): added SNOMED CT code, UMLS CUI; revised ICD-10-CM code
Condition Trifunctional protein deficiency (TFP): revised ICD-9-CM code, ICD-10-CM code

Revised Enzyme Commission numbers (April 20, 2011)

Condition 2-Methylbutyrylglycinuria (2MBG): revised Enzyme Commission number
Condition 3-Methylglutaconic aciduria (3MGA): revised Enzyme Commission number
Condition Hydroxyprolinemia (OH PRO): added Enzyme Commission number
Condition Valinemia (Hyper VAL): added Enzyme Commission number

Removal of hemoglobin-related and answer-list SNOMED codes (December 14, 2010)

Condition Hb beta zero-thalassemia (Hb F only): removed SNOMED CT code
Condition Hb C beta-thalassemia (Hb F,C,A): removed SNOMED CT code
Condition Hb C-carrier (Hb F,A,C): removed SNOMED CT code
Condition Hb C-disease (Hb F,C): removed SNOMED CT code
Condition Hb carrier other than C,D,E,S,O-Arab (Hb F,A and other than C,D,E,S,O-Arab): removed SNOMED CT code
Condition Hb D beta-thalassemia (Hb F,D,A): removed SNOMED CT code
Condition Hb D-carrier (Hb F,A,D): removed SNOMED CT code
Condition Hb disease other than A,C,D,E,F,H,O-Arab,S (Hb F, and other than A,C,D,E,F,H,O-Arab,S): removed SNOMED CT code
Condition Hb E beta-thalassemia (Hb F,E,A): removed SNOMED CT code
Condition Hb E-carrier (Hb F,A,E): removed SNOMED CT code
Condition Hb E-disease (Hb F,E): removed SNOMED CT code
Condition Hb H-disease (Hb F,H): removed SNOMED CT code
Condition Hb O-Arab carrier (Hb F,A,O-Arab): removed SNOMED CT code
Condition Hb S (sickle)-carrier (Hb F,A,S): removed SNOMED CT code
Condition Hb S beta-thalassemia (Hb F,S,A): removed SNOMED CT code
Condition Hb S O-Arab disease (Hb F,S,O-Arab): removed SNOMED CT code
Condition Hb S Other than A,C,D,E,O-Arab (Hb F,S and other than A,C,D,E,O-Arab): removed SNOMED CT code
Condition Hb SC-disease (Hb F,S,C): removed SNOMED CT code
Condition Hb SD-disease (Hb F,S,D): removed SNOMED CT code
Condition Hb SE-disease (Hb F,S,E): removed SNOMED CT code
Condition Hb SS-disease (sickle cell anemia) (Hb F,S): removed SNOMED CT code

Alignment of analyte names with LOINC (September 30, 2010)

Measurement Hemoglobin Barts/Hemoglobin.total (%Hb Bart's): revised Name
Measurement Hemoglobin pattern by Electrophoresis: revised Short Name, Name
Measurement Hemoglobin pattern by HPLC: revised Name
Measurement Hemoglobin pattern by Isoelectric focusing: revised Short Name, Name
Measurement Toxoplasma gondii IgM Ab (Tox IgM): revised Name

Codes from the 2010AA release of UMLS (September 8, 2010)

Condition 2-Methyl-3-hydroxybutyric aciduria (2M3HBA): removed SNOMED CT code
Condition Ethylmalonic encephalopathy (EMA): revised UMLS CUI; removed SNOMED CT code
Condition Isobutyrylglycinuria (IBG): revised UMLS CUI

Committee's 2010 expansion of uniform screening panel (September 1, 2010)