About the Newborn Screening Coding and Terminology Guide

The goal of the Newborn Screening Coding and Terminology Guide is to promote and facilitate the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and the conditions for which they screen, and links to other related sites. The codes and vocabulary standards are provided in a series of tables that you can view on the Web and/or download for your own use. These tables cover conditions recommended for screening by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee) or by a state within the U.S.

Use of these standards can speed the delivery of newborn screening reports, facilitate the care and follow-up of infants with positive test results, enable the use (and comparison) of data from different laboratories, and support the development of strategies for improving the newborn screening process.

The Newborn Screening Codes Web site carries the proposed codes and terminology needed to fully standardize electronic newborn screening reports. The Web site includes tables that list:

  1. Codes, names and related information for the clinical conditions that are the targets of newborn screening
  2. Codes, names and associated information for the analytes/measurements that serve as markers for these conditions
  3. Mappings between conditions and markers

The tables carry all of the core and secondary conditions from the Recommended Uniform Screening Panel, as well as conditions and markers that are not part of the Uniform Screening panel but are screened for by one or more state.

The tables encompass both Early Hearing Detection and Intervention testing and newborn dried blood spot testing.

This Web site provides tools for producing Web-based views that show all or selected portions of the above-mentioned tables, and for downloading the tables as CSV files that can be displayed in spreadsheet programs or loaded into your own databases.

As the field of newborn screening evolves, the Committee will likely add to and/or revise these recommendations and tables. When they do, Lister Hill National Center for Biomedical Communications of the National Library of Medicine will update the contents of this Web site accordingly.

The initial content of these tables was developed by the Office of the National Coordinator for Health Information Technology, based on the selection of harmonized standards by the Healthcare Information Technology Standards Panel.

This Web site also includes draft guidance for creating an HL7 version 2.x message using these codes with examples. If you would like us to notify you about updates to this guidance and other new content, please subscribe to the NBS-Announcements e-mail list from the National Library of Medicine.