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The common occurrence of characteristic symptoms can be used to infer diagnoses. The aim of this study is to show how syndrome similarity analysis using given phenotypic profiles can help… Click to show full abstract
The common occurrence of characteristic symptoms can be used to infer diagnoses. The aim of this study is to show how syndrome similarity analysis using given phenotypic profiles can help in the diagnosis of rare diseases. HPO was used to map syndromes and phenotypic profiles. The system architecture described is planned to be implemented in a clinical decision support system for unclear diseases.
Keywords:
support rare;
rare diseases;
phenotypic profiles;
diagnosis support
Journal Title: Studies in health technology and informatics
Year Published: 2023
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Journal Title: Studies in health technology and informatics
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!