ERN Vocabularies — European Reference Network Terminologies
Overview
The European Reference Networks (ERNs) are virtual networks connecting healthcare providers across Europe for rare and complex diseases, established in 2017 under the Cross-Border Healthcare Directive (2011/24/EU). There are 24 ERNs covering different disease domains. ERN-RND (European Reference Network for Rare Neurological Diseases, https://ern-rnd.eu) covers rare movement disorders, neurodegenerative diseases, hereditary neurological diseases, and neuroimmunological conditions. ERN-EpiCARE (European Reference Network for Rare and Complex Epilepsies, https://epi-care.eu) covers rare and complex epilepsy syndromes. Each ERN develops and maintains patient registry data models and controlled vocabularies for their disease domains.
ERN-RND Vocabulary and Registry
ERN-RND coordinates the RND-registry, a federated European patient registry for rare neurological diseases built on a shared data model. It uses ORDO for disease coding, HPO for phenotypic characterisation, OMOP CDM for data standardisation enabling federated analyses, ICD-10/11 codes alongside ORDO for administrative interoperability, and ERN-RND-specific data dictionaries for disease-specific assessments such as ataxia rating scales, dystonia severity, and Huntington progression.
ERN-EpiCARE Vocabulary and Registry
ERN-EpiCARE coordinates the EpiCARE registry covering rare epilepsy syndromes. It uses ORDO for rare epilepsy syndrome coding, HPO for seizure type and phenotype description, ILAE (International League Against Epilepsy) seizure and syndrome classifications, and EEG and imaging data models aligned with BIDS (EEG-BIDS).
Connections
Resources
- https://ern-rnd.eu (ERN-RND — Rare Neurological Diseases)
- https://epi-care.eu (ERN-EpiCARE — Rare Epilepsies)
- https://ern-rnd.eu/research/rnd-registry/ (RND-registry)
- https://www.eurordis.org/ern (EURORDIS ERN overview)
- https://health.ec.europa.eu/rare-diseases-and-erns_en (European Commission ERN portal)