Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Carole FaviezXiaoyi ChenNicolas GarcelonMohamad ZaidanKaty BillotFriederike PetzoldHassan FaourMaxime DouilletJean-Michel RozetValerie Cormier-DaireTania Attié-BitachStanislas LyonnetSophie SaunierAnita BurgunPublished in: BMC Medical Informatics Decis. Mak. (2024)
Keyphrases
- lessons learned
- support systems
- clinically relevant
- case study
- medical diagnosis
- disease diagnosis
- future directions
- fault diagnosis
- early diagnosis
- model based diagnosis
- decision support system
- cardiovascular disease
- participatory design
- genetic algorithm
- real world
- neurodegenerative diseases
- database
- knowledge based systems
- decision makers
- knowledge management
- artificial intelligence
- data sets