Data & sample collections...
6 collections
Registry focused on the outcome of treatment using standardised diagnosis specific outcome sets (starting with craniosynostosis and cleft lip/palate) - including patient reported outcome measures and outcomes on patients’ quality of life....
ERN SKIN covers the medical field of rare, complex and undiagnosed skin disorders in children and adults. Most of them are exclusively cutaneous/sub-cutaneous and often present a severe prognosis, because of the intensity of the cutaneous/mucosal inv...
The GENTURIS registry is affiliated to ERN GENTURIS. ERN GENTURIS is the European Reference Network for all patients with a genetic tumour risk syndrome (GENTURIS). The GENTURIS registry enables sharing of knowledge and resources from expertise cente...
The main objective of ILIAD registry is to set up an interoperable registry dedicated to rare diseases within the scope of ITHACA. We intend to develop a single, trans-ERN "meta-registry" of patients with developmental anomalies (dysmorphic/Multiple ...
The Netherlands Genetic Tumour Risk Registry NESTOR Registry is the Dutch registry for patients with genetic tumour risk syndromes (genturis). It is associated with 8 Dutch centres participating in the KWF NESTOR project and serves as a comprehensive...
The main aim of ERN ReCONNET is to improve the management of rare connective tissue and musculo-skeletal diseases (rCTDs) across the EU. The main objectives of ERN ReCONNET are: • Realisation of the potential of European cooperation among rCTDs stake...