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Table 3 Results of the charted data items

From: Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

Data item Subcategories Total/Frequency
Functionality Analysis or comparison of genetic and phenotypic data 12 (63.2%)
Information retrieval 4 (21.0%)
Machine learning 3 (15.8%)
Development status Fully developed systems 14 (73.7%)
Clinical prototypes 5 (26.3%)
Type of clinical data Phenotypic and/or genetic data 12 (63.2%)
Clinical data 8 (42.1%)
Literature databases 3 (15.8%)
Patient questionnaires 2 (10.5%)
Rare Diseases covered All rare diseases 15 (78.8%)
Neuromuscular rare diseases 1 (5.3%)
Pulmonary rare diseases 1 (5.3%)
Rare brain cancer diseases 1 (5.3%)
Other 1 (5.3%)
System availability The system can be used online and free, subject to registration 6 (31.6%
The system is not available for personal use 5 (26.3%)
The system can be downloaded, subject to registration 4 (21.0%)
The system can be used online and free, no registration necessary 3 (15.8%)
The system can be downloaded, no registration necessary 1 (5.3%)
Data entry and integration Data entry with forms and data upload is possible 6 (31.6%)
REST-API available 6 (31.6%)
Data entry is only possible with forms 4 (21.0%)
No information available 4 (21.0%)
ETL processes 1 (5.3%)
Data upload is possible 1 (5.3%)
Last software update No information available 13 (68.4%)
Information available 6 (31.6%)
Current clinical usage No information available 13 (68.4%)
Information available 6 (31.6%)