Newborn Screening Coding and Terminology Guide

This is a web-based tool to allow the review of proposed standards for newborn screening condition and analyte terminology, codes, and mapping for the purpose of supporting the generation and exchange of electronic laboratory reports for newborn screening. Based on a recommendation approved by the American Health Information Community (AHIC) these data are provided for clinical conditions identified and the quantitative analytes measured.

In addition, data include a variety of coding systems that may be required for rare disorders genetic disorders and provide LOINC codes to assist in identifying results included in a newborn screening report and documenting the methods used in the laboratory.

Early Hearing Detection and Intervention (EHDI) testing is included in addition to newborn dried blood spot testing. The aim is to accurately document and encode the data in order to identify the conditions screened for or identified as well as the test results that are associated with those conditions. Maintenance of the newborn screening guide and codes will be an on-going activity as the field of newborn screening changes.

The queries listed illustrate the types of coding and terminology that will be available for use in electronic reporting of newborn screening results. Use of a standard framework for coding and terminology will assist in the comparison of data from different laboratories and help identify gaps in coding that to support the exchange of electronic newborn screening reports.

Conditions:

The Conditions query lists the conditions that can be identified by newborn screening tests along with appropriate diagnostic codes. The report includes conditions that are tested for by tandem mass spectrometry (MS/MS) on newborn dried blood spots, and conditions indentified by non-tandem mass spectrometry tests performed on newborn dried blood spots, as well as hearing loss detected through early hearing detection and intervention (EHDI) programs.

Analytes /Results:

The Analytes query lists the analytes or chemical entities that are measured by newborn screening tests along with appropriate LOINC codes that are used to identify specific laboratory result fields on electronic laboratory reports. The report includes conditions that are tested for by tandem mass spectrometry (MS/MS) on newborn dried blood spots, and conditions indentified by non-tandem mass spectrometry tests performed on newborn dried blood spots, as well as hearing loss detected through early hearing detection and intervention (EHDI) programs.

Conditions to Analytes:

The MS/MS Condition to Analyte Mapping query lists the analytes or laboratory measures that may be abnormal in the presence of a condition or disorder.

Analytes to Conditions:

The MS/MS Analyte to Condition Mapping query lists the conditions or disorders that are suggested by an abnormal analyte or laboratory measurements.

Click here for full text of the Newborn Screening Draft Detailed Usecase

Click here for the print version of the Resource Guide for Newborn Screening Draft Detailed Use Case