Achondroplasia
The condition specific module was launched in February 2022 and is the work of the Achondroplasia Study Group.
Want to start using the module? Get access to the Core Registry and read the instructions (, 1 MB) on how to use the module.
After entering the patient in the core registry, the achondroplasia module appears automatically and is ready to use.
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 here.
Do not forget for all bone conditions EQ-5D-5L and mobility should be assessed (either by clinician or patient with access) yearly. you will need to set those within the general bone dysplasia module.
The module collects information on
- Family history;
- Anthropometry;
- Clinical features (including the assessment of foramen magnum score and spinal stenosis);
- Medical and surgical treatment.
