Article
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
BMC medical informatics and decision making - 24 May 2024
Faviez Carole, Chen Xiaoyi, Garcelon Nicolas, Zaidan Mohamad, Billot Katy, Petzold Friederike, Faour Hassan, Douillet Maxime, Rozet Jean-Michel, Cormier-Daire Valérie, Attié-Bitach Tania, Lyonnet Stanislas, Saunier Sophie, Burgun Anita
Abstract excerpt
BACKGROUND: There are approximately 8,000 different rare diseases that affect roughly 400 million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare monogenic disorders characterized by a significant phenotypic and genetic heterogeneity that raises an important challenge for clinical diagnosis. Diagnosis support systems (DSS) applied to electronic health record (EHR) data may help...
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