ArticleOrphanet journal of rare diseases2021
Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Global Epidemiology of Paroxysmal Nocturnal Hemoglobinuria: A Systematic Literature Review.Journal of epidemiology and global health · 2026Pooled it
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Aging and rare diseases: from epidemiology to a call to action.European geriatric medicine · 2026Article
- Short-term outcomes of centralization on surgical care for patients with anorectal malformations: retrospective cohort study.BJS open · 2025Article
- Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.International journal of molecular sciences · 2025Review
- Trends in the Japanese National Medical Licensing Examination: Cross-Sectional Study.JMIR medical education · 2025Article
- POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.Pediatric neurology · 2025Article
- MedBot vs RealDoc: efficacy of large language modeling in physician-patient communication for rare diseases.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- National centralization of Hirschsprung's disease in Sweden: a comparison of postoperative outcome.Pediatric surgery international · 2024Article
- The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.Journal of clinical immunology · 2024Article
- A Systematic Review of the Epidemiology and Disease Burden of Congenital and Immune-Mediated Thrombotic Thrombocytopenic Purpura.Journal of blood medicine · 2024Review
- Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review.Pediatric reports · 2023Review
- Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives.Orphanet journal of rare diseases · 2022Article
- So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.Italian journal of pediatrics · 2022Article
- Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.International journal of environmental research and public health · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiagnostic precision and the identification of rare diseases is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next tertiary medical facility with highly specialized care and the diagnostic precision, especially for rare diseases.
resultsUsing a nation-wide hospitalization database, we found a negative association between diagnostic diversity and travel time to the next tertiary referral hospital when including all cases throughout the overall International Classification of Diseases version 10 German Modification (ICD-10-GM) diagnosis codes. This was paralleled with a negative association of standardized incidence rates in all groups of rare diseases defined by the Orphanet rare disease nomenclature, except for rare teratologic and rare allergic diseases.
conclusionOur findings indicate a higher risk of being mis-, under- or late diagnosed especially in rare diseases when living more distant to a tertiary medical facility. Greater distance to the next tertiary medical facility basically increases the chance for hospitalization in a non-comprehensive regional hospital with less diagnostic capacity, and, thus, impacts on adapted health care access. Therefore, solutions for overcoming the distance to specialized care as an indicator of health care access are a major goal in the future.
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