ArticleOrphanet journal of rare diseases2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Living with a rare disease: Why lived experience must shape research.PLoS medicine · 2026Article
- Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden.Journal of community genetics · 2026Article
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Application of artificial intelligence in paediatric oncology imaging.Pediatric radiology · 2026Review
- Persona-Driven Data Augmentation for Disease Name Recognition Across Rare and General Disease Corpora: Comparative Evaluation Study.JMIR medical informatics · 2026Article
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Targeted Next-Generation Sequencing for Improved Clinical Outcomes in People Living With Rare Diseases in Global South: Protocol for a Systematic Review and Meta-Synthesis.JMIR research protocols · 2026Article
- Capsule-enhanced hierarchical vision transformers for rare disease classification from medical images.Scientific reports · 2026Article
- The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.Orphanet journal of rare diseases · 2026Article
- Rare diseases in Colombia: Current situation and ideas for a better futureBiomedica : revista del Instituto Nacional de Salud · 2026Article
- Centering the marginalized: AI-driven strategies for advancing health equity in rare disease care.Patterns (New York, N.Y.) · 2026Review
- A weakly supervised transformer for rare disease diagnosis and subphenotyping from EHRs with pulmonary case studies.NPJ digital medicine · 2026Article
- Bridging data gaps of rare conditions in ICU: a multi-disease adaptation approach for clinical prediction.NPJ digital medicine · 2026Article
- Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue.BMC medical informatics and decision making · 2025Article
- Article
- Real-World Safety Profile of EVO and EVO+ Implantable Collamer Lenses: A Retrospective Study Based on FDA Surveillance Data.Ophthalmology and therapy · 2025Article
- Theological and Ethical Perspectives on Gene Editing and the Sanctity of Life: Rare Genetic Diseases in the Philippines as a Model.Journal of religion and health · 2025Review
- Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists.Clinical and translational science · 2025Review
- Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye.Frontiers in public health · 2024Article
- A review of key terminology and definitions used for birth defects globally.Journal of community genetics · 2023Article
Corrections and comments
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for actions. A multi-stakeholder, global panel of rare disease experts, came together and developed an Operational Description of Rare Diseases. This reference describes which diseases are considered rare, how many persons are affected and why the rare disease population demands specific attention. The operational description of rare diseases is framed in two parts: a core definition of rare diseases, complemented by a descriptive framework of rare diseases. The core definition includes parameters that permit the identification of which diseases are considered rare, and how many persons are affected. The descriptive framework elaborates on the impact and burden of rare diseases on patients, their caregivers and families, healthcare systems, and society overall. The Operational Description of Rare Diseases establishes a common point of reference for decision-makers across the world who strive to understand and address the unmet needs of persons living with a rare disease. Adoption of this reference is essential to improving the visibility of rare conditions in health systems across the world. Greater recognition of the burden of rare diseases will motivate new actions and policies to address the unmet needs of the rare disease community.
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