This page lists recent additions and changes to the Newborn Screening Coding and Terminology Guide.
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- Updated LOINC Newborn Screening AHIC panel 54089-8 (October 4, 2012)
LOINC version 2.40
- 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.
- 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)
- 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)
- Revised HL7 Annotated Example Message (October 13, 2011)
- Updated Enzyme Code (September 19, 2011)
- New SNOMED codes from the US Extension to SNOMED CT (September 19, 2011)
- Harmonized analyte names with LOINC (September 19, 2011)
- 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.
- 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.
- Revised HL7 Annotated Example Message (May 25, 2011)
- 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
- LOINC Panel Hierarchy and Answer Lists Report (pdf), version 20110524
- LOINC Panel Hierarchy and Answer Lists Spreadsheet (xls), version 20110524
- 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 C-carrier (Hb F,A,C): revised mapping to Measurements
- Condition Hb C-disease (Hb F,C): 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 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 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 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
- Updated LOINC Newborn Screening AHIC panel 54089-8 (May 5, 2011)
LOINC version 2.34 plus updates that will be available in the June 2011 LOINC release
- 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)
- Additional conditions (April 20, 2011)
- Revisions from LOINC (April 20, 2011)
- 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-acylcarnitine translocase deficiency (CACT): revised ICD-9-CM code
- 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 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 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 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 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 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 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 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)
- 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 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 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 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 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 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 SS-disease (sickle cell anemia) (Hb F,S): removed SNOMED CT code
- Alignment of analyte names with LOINC (September 30, 2010)
- Codes from the 2010AA release of UMLS (September 8, 2010)
- SACHDNC 2010 expansion of uniform screening panel (September 1, 2010)
- New codes from the July 2010 release of SNOMED CT (August 20, 2010)
- Corrected OMIM IDs (August 20, 2010)
- Revisions from LOINC (April 12, 2010)
- New codes from the January 2010 release of SNOMED CT (February 22, 2010)
- Revised HL7 Sample Message (February 12, 2010)
- New codes from LOINC (February 5, 2010)
- SACHDNC recommends SCID for core panel (January 28, 2010)
- New codes from LOINC (January 27, 2010)
- Revised HL7 Sample Message (January 7, 2010)
- New HL7 Sample Message (December 17, 2009)
- New and revised codes from LOINC (November 24, 2009)
- Debut (September 15, 2009)
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