ArticleDer Internist2018
[Computer-assisted diagnosis of rare diseases].
Article in Der Internist, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- [Rare diseases: a concept for a structured diagnostic pathway].Innere Medizin (Heidelberg, Germany) · 2026Review
- Evaluating the Prototype of a Clinical Decision Support System in Primary Care: Qualitative Study.JMIR formative research · 2025Article
- The economic burden of diagnostic uncertainty on rare disease patients.BMC health services research · 2024Article
- Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process.BMC medical informatics and decision making · 2023Article
- Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!Pediatric pulmonology · 2023Article
- Rare disease curative care expenditure-financing scheme-health provider-beneficiary group analysis: an empirical study in Sichuan Province, China.Orphanet journal of rare diseases · 2022Article
- A Novel Diagnostic Decision Support System for Medical Professionals: Prospective Feasibility Study.JMIR formative research · 2022Article
- Clinical Decision Support Systems.Visceral medicine · 2021Review
- [What is confirmed in the diagnostics of autoinflammatory fever diseases?]Der Internist · 2021Review
- [Digital diagnostic support in rheumatology].Zeitschrift fur Rheumatologie · 2021Review
- Health economic benefits through the use of diagnostic support systems and expert knowledge.BMC health services research · 2021Article
- [European Reference Network for Rare Hepatological Diseases (ERN RARE-LIVER)].Der Internist · 2021Review
- [What entertainment television can do to convey medical knowledge to students and laypeople-raising awareness of rare diseases].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2021Review
- Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.Orphanet journal of rare diseases · 2020Article
- Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study.BMC medical informatics and decision making · 2020Article
- [Information technology and eHealth to improve patient safety].Der Internist · 2020Review
- Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study.Orphanet journal of rare diseases · 2019Article
- Orthodontically Relevant Manifestations in People with Rare Diseases.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To establish a comprehensive diagnosis is by far the most challenging task in a physician's daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. No clinician can be aware of all the different entities and memorizing them all is impossible and inefficient. Specific diagnostic decision-supported systems provide better results than standard search engines in this context. The systems FindZebra, Phenomizer, Orphanet, and Isabel are presented here concisely with their advantages and limitations. An outlook is given to social media usage and big data technologies. Due to the high number of initial misdiagnoses and long periods of time until a confirmatory diagnosis is reached, these tools might be promising in practice to improve the diagnosis of rare diseases.
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.