Rare Hypophosphataemia

The condition specific module was launched in January 2023 and is the work of the Rare Hypophosphataemia Study Group. This module aims to collect baseline and longitudinal data on the reported cases of rare hypophosphataemia.

If you have questions or interest in joining the working group, please contact us on: registries@lumc.nl.

The full data dictionary can be downloaded when available.

Want to start using the module? Get access to the Core Registry.

After entering the patient with the diagnosis of any type of Rare Hypophosphataemia in the Core Registry, the Rare Hypophosphataemia module appears automatically and is ready to use.

The module collects the information on

• Anthropometry;
• Parental data;
• Genetics;
• Clinical findings (including hearing impairment, sleep apnea, intercondylar and intermalleolar distance, 6-minute walk test and dental findings);
• Musculoskeletal findings (clinical and radiological);
• Instrumental and biochemical findings;
• Medical and other treatment.