ArticleOrphanet journal of rare diseases2023
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- ICD-11 "by the people for the people": The open feedback proposal platform.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem.Intractable & rare diseases research · 2026Review
- Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study.JMIR medical informatics · 2026Article
- A dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders.Scientific data · 2026Article
- Aging and rare diseases: from epidemiology to a call to action.European geriatric medicine · 2026Article
- Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needs.Orphanet journal of rare diseases · 2026Article
- MedHopper: an agentic RAG-LLM system for multi-hop biomedical QA.Database : the journal of biological databases and curation · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).Orphanet journal of rare diseases · 2025Article
- Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).European journal of neurology · 2025Article
- The United Nations convention on rare diseases-A framework for research prioritization.Frontiers in public health · 2025Article
- Classification and epidemiologic analysis of 86 diseases inIntractable & rare diseases research · 2024Article
- Measuring the impact of rare diseases in Tasmania, Australia.Orphanet journal of rare diseases · 2024Article
- Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.Pharmaceutical medicine · 2024Review
- [Rare diseases in a medical genetics service of population with social security].Revista medica del Instituto Mexicano del Seguro Social · 2024Article
- Rare diseases: still on the fringes of universal health coverage in Europe.The Lancet regional health. Europe · 2024Review
- Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.Orphanet journal of rare diseases · 2024Article
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18 authors.
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Abstract
backgroundEstimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021.
resultsOverall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases.
conclusionsORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.
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