Birth Defect Reporting Implementation Guide
0.1.0 - CI Build

Birth Defect Reporting Implementation Guide, published by null. This is not an authorized publication; it is the continuous build for version 0.1.0). This version is based on the current content of and changes regularly. See the Directory of published versions



Regional, state and territorial public health population-based birth defect registries collect, manage, and analyze data about birth defect cases. Many birth defect surveillance programs have instituted mandatory reporting requirements in an effort to receive accurate and complete information about the suspected or diagnosed condition. However, in the absence of widely adopted interoperability standards in this domain, reporting complete and accurate information to public health registries has been time consuming, slow and subject to error and other difficulties. This leads to missed cases and undercounting of many conditions. Incomplete reporting of birth defect conditions can slow down progress in measuring the prevalence and impact of these conditions, complicate finding the underlying etiology and delay the development of primary and secondary prevention and intervention strategies.


This Implementation Guide contains the necessary specifications, profiles and value sets for the implementation of standardized data transmissions using the HL7 FHIR standard. A standardized method will allow more efficient and accurate transmission of birth defects information while reducing the burden on providers, implementers/developers and public health programs. This specification aims to harmonize with other HL7 products including FHIR US Core profiles, the Vital Records Domain Analysis Model and the existing CDA Birth Defect Reporting implementation guide as well as content produced by other organizations such as the Surveillance Guidelines from the National Birth Defect Prevention Network.


The authors of this implementation guide would like to acknowledge the work effort put forward by project teams for the standards mentioned above without which this specification would not be possible. In particular, many thanks to the many birth defect registry programs who contributed time and expertise to identify the data elements critical to report.