You can download the full tables of conditions, markers, and the relationships between them. Both comma-separated
(spreadsheet) and XML formats are available.
Each table can be downloaded and opened with spreadsheet software, such as Microsoft Excel or OpenOffice.org Calc.
- Conditions.csv — tabular data for conditions and their
attributes, including standard data codes from multiple clinical medical terminologies.
- Analytes.csv — tabular data for analytes/measurements that
serve as markers for conditions of interest to newborn screening. Each row includes the analyte name, short
name, Logical Observation Identifiers Names and Codes (LOINC) code, units of measure, and LOINC long common
- Mappings.csv — tabular data that maps the associations between
conditions and their markers.
For data-processing use, the database of conditions, related analytes, and references to clinical medical
terminologies is also available as a single XML data file.