Study On The Construction Of A Rare Disease Database And The Design Of Its Map Service Platform

Background:Rare disease data resources are currently scarce in China,with case data are scattered across various departments in hospitals,the establishment of a rare disease case registration system is still at a preliminary stage,and patients with rare diseases face great difficulties in seeking information related to diagnosis and treatment,while access to timely medical services,comprehensive social and Therefore,strengthening the construction of a rare disease database,accelerating the construction of a knowledge service platform and improving the level of services for rare disease patients are the key and focus of current research,and it is necessary to establish a nationwide,multi-sectoral and multi-agency rare disease map service platform that incorporates multiple diseases and caters to different groups.Objects:The main objective of this study is to establish a multi-data source database of rare disease information resources,and to design a rare disease map service platform by referring to the structural features of various disease registration systems and databases at home and abroad,as well as the specific conditions in the process of diagnosis and treatment of rare diseases in China.The aim is to build a more comprehensive rare disease database and provide an important reference for the development of a rare disease map service platform.Methods:The research was carried out for rare disease database and service platform,based on the official Chinese rare disease catalogue,and through literature research,combing rare disease guidelines and books for epidemiological knowledge,clinical characteristics and treatment processes of rare diseases,and grasping the basic characteristics of rare diseases.Collect and collate relevant data from the National Health and Commission,the China Rare Disease Registration System and various academic journal databases and other network resources,create a database using SQL Server,construct a rare disease medical knowledge map of rare diseases based on the ontology,build a knowledge base based on the graph database,conduct laboratory analysis with the help of relevant components of ArcGIS,draw a map related to rare diseases,and complete the design research of the rare disease map service platform in conjunction with the geographic information system.Results:With reference to the structure of rare disease registration systems and various medical database systems at home and abroad,and taking into account the actual situation in China,this study finally completed the design and establishment of rare disease databases,mainly including disease databases,treatment hospital databases,patient organization databases and population thematic databases,etc.,and based on this,a map visualization of some rare disease related information was realized.Based on the system design theory,the map service platform for rare diseases is designed in modules and its application areas are explained.Conclusion:In response to the characteristics of rare diseases and the current situation of rare disease data resources in China,this study designs and establishes a model rare disease information resource database and designs a knowledge-serving rare disease map service platform.The platform can centralize the basic knowledge and case information of rare diseases,store clinical information so as to conduct data query and statistical analysis,analyze the epidemiological characteristics of rare diseases,reasonably allocate the resources of treatment hospitals and provide social support for patients,etc.It has a large application value and is conducive to further research on the case situation,data management,clinical work and scientific research of rare diseases in China,and increase the social attention of rare diseases.The system is also useful for further research on rare diseases in China,data management,clinical work and scientific research,and for raising the social awareness of rare diseases,supporting further research and the formulation of corresponding policies and measures.Some of the functions of the system have yet to be further added and improved,and realistic support has yet to be further tried.