Diagnosis Support for Rare Diseases Using Phenotypic Profiles

被引：0
|
作者：
Noll, Richard [1 ]
Schaaf, Jannik [1 ]
Von Wagner, Michael [2 ]
Storf, Holger [1 ]
机构：
[1] Goethe Univ Frankfurt, Inst Med Informat, Univ Hosp Frankfurt, Frankfurt, Germany
[2] Univ Hosp Frankfurt, Dept Med Informat Syst & Digitalizat, Frankfurt, Germany
来源：
CARING IS SHARING-EXPLOITING THE VALUE IN DATA FOR HEALTH AND INNOVATION-PROCEEDINGS OF MIE 2023 | 2023年 / 302卷
关键词：
Clinical Decision Support; Rare Disease; Syndrome;
D O I：
10.3233/SHTI230216
中图分类号：
TP39 [计算机的应用];
学科分类号：
081203 ; 0835 ;
摘要：
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.
引用
收藏
页码：607 / 608
页数：2
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