Skip to main content

Table 3 Publication summary

From: Diagnosis support systems for rare diseases: a scoping review

MaterialKnowledgeMachine learningArticles
Phenotype concepts (22 studies)Knowledge-based (14 studies)No[2, 54, 55, 61, 63,64,65,66,67,68,69,70,71, 77]
Hybrid (7 studies)Yes[27, 73,74,75,76, 78]
No[25]
Data driven (1 study)Yes[72]
Fluids (12 studies)Hybrid (2 studies)Yes[28, 29]
Data driven (10 studies)Yes[20, 23, 24, 31, 36, 42, 47, 48, 56, 60]
Images (16 studies)Hybrid (2 studies)Yes[41, 45]
Data driven (14 studies)Yes[19, 21, 22, 30, 33,34,35, 43, 44, 49, 51, 57, 59, 62]
Questionnaires (3 studies)Data driven (3 studies)Yes[52, 53, 58]
Family history and combined material (8 studies)Knowledge-based (5 studies)No[26, 32, 38, 46, 50]
Hybrid (2 studies)Yes[37, 39]
Data driven (1 study)Yes[40]
  1. References are listed in column “articles” according to the type of material considered and the model used (presence/absence of prior knowledge and of machine learning). The number of studies according to material and knowledge is given in parentheses