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 (ACHDNC) 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.

Work is underway on guidance for creating an HL7 version 2.x message using these codes with examples, which will appear on this website in the future. If you would like us to notify you about this and other new content, please subscribe to the NBS-Announcements e-mail list from the U.S. National Library of Medicine.

You can reach these various resources by picking a choice below.

• Views: Generate customized Web views from the tables of conditions and analytes/measurements maintained by the U.S. National Library of Medicine (NLM®).

  • Conditions — Conditions that are targeted by newborn screening

  • Analytes/Measurements — Tests that are used as markers for newborn screening conditions

  • Tailored Views — Specify subsets, or see relationships between conditions and analytes/measurements

• Downloads: Download the tables of newborn screening conditions, of markers for these conditions and/or of mappings between conditions and their markers.
• Resources: Find additional information about newborn screening and related codes and data standards, including the Newborn Screening Draft Detailed Use Case that was developed by the Office of the National Coordinator for Health Information Technology (ONC).
• Code and Terminology Standards: View terms of use and other information about codes and terminologies listed and referenced on this Web site, including Logical Observation Identifiers Names and Codes (LOINC®), Systematized Nomenclature of Medicine — Clinical Terms (SNOMED CT®), and others.
• About: Learn about the Newborn Screening Coding and Terminology Guide.

Your questions and comments are welcome. Contact Us.