You can download the full tables of conditions, markers, and the relationships between them. Both comma-separated (spreadsheet) and XML formats are available.
Comma-separated files
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 name.
- Mappings.csv — tabular data that maps the associations between conditions and their markers.
XML file
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.