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
相关论文
共 50 条
  • [41] DIFFERENTIAL DIAGNOSIS OF RARE DISEASES IN PETROUS BONE
    NAUMANN, WH
    ARCHIVES OF OTO-RHINO-LARYNGOLOGY, 1974, 207 (02): : 493 - 494
  • [42] Preventing gatekeeping delays in the diagnosis of rare diseases
    de Vries, Esther
    Fransen, Lisa
    van den Aker, Marlon
    Meijboom, Bert R.
    BRITISH JOURNAL OF GENERAL PRACTICE, 2018, 68 (668): : 145 - 146
  • [43] Electronic health records for the diagnosis of rare diseases
    Garcelon, Nicolas
    Burgun, Anita
    Salomon, Remi
    Neuraz, Antoine
    KIDNEY INTERNATIONAL, 2020, 97 (04) : 676 - 686
  • [44] Amyloidosis: A rare differential diagnosis of bullous diseases
    Jappe, U
    Hausser, I
    Michaelsen, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (04) : 948 - 948
  • [45] Glycomics in rare diseases: from diagnosis to mechanism
    Davids, Mariska
    Kane, Megan S.
    Wolfe, Lynne A.
    Toro, Camilo
    Tifft, Cynthia J.
    Adams, David
    Li, Xueli
    Raihan, Mohd A.
    He, Miao
    Gahl, William A.
    Boerkoel, Cornelius F.
    Malicdan, May Christine V.
    TRANSLATIONAL RESEARCH, 2019, 206 : 5 - 17
  • [46] Editorial: Improving medical diagnosis in rare diseases
    Linhares, Natalia Duarte
    Gorman, Kathleen M.
    Brusco, Alfredo
    FRONTIERS IN GENETICS, 2022, 13
  • [47] Integrating ontologies of rare diseases and radiological diagnosis
    Kahn, Charles E., Jr.
    JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION, 2015, 22 (06) : 1164 - 1168
  • [48] Special Issue "Diagnosis and Treatment of Rare Diseases"
    Hermida-Ameijeiras, Alvaro
    JOURNAL OF CLINICAL MEDICINE, 2024, 13 (09)
  • [49] Significance of chitotriosidase in the diagnosis of some rare diseases
    Sumarac, Z.
    Vukovic, N. Suvajdzic
    Petakov, M.
    Stjepanovic, M.
    Toumi, S.
    Sumarac, A.
    CLINICA CHIMICA ACTA, 2024, 558
  • [50] PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
    Buske, Orion J.
    Girdea, Marta
    Dumitriu, Sergiu
    Gallinger, Bailey
    Hartley, Taila
    Trang, Heather
    Misyura, Andriy
    Friedman, Tal
    Beaulieu, Chandree
    Bone, William P.
    Links, Amanda E.
    Washington, Nicole L.
    Haendel, Melissa A.
    Robinson, Peter N.
    Boerkoel, Cornelius F.
    Adams, David
    Gahl, William A.
    Boycott, Kym M.
    Brudno, Michael
    HUMAN MUTATION, 2015, 36 (10) : 931 - 940
12345