Rare disease case registration method

Abstract

The invention discloses a rare disease case registration method. The method comprises the steps: S1, establishing a rare disease case registration system; S2, logging in the registration system through a pre-registered user account; S3, judging whether related rare diseases are added into the registration system or not: if so, skipping to the step S6, and otherwise, continuing to execute the stepS4; S4, uploading a to-be-checked file which needs to be submitted for performing queue research on related rare diseases to the registration system; S5, checking the to-be-checked file: if checking is passed, continuing to execute the step S6, and otherwise, returning to the step S4; S6, designing and generating metadata and a dictionary for related rare diseases; S7, making a research form by utilizing the metadata and the dictionary; S8, inputting the case data of the related rare diseases into the research form. According to the method, various rare disease cases can be efficiently and comprehensively collected, so a foundation is laid for a researcher to carry out effective rare disease research in the next step, and the diagnosis efficiency of rare diseases is improved.

Description

technical field [0001] The invention relates to the technical field of medical information, in particular to a rare disease case registration method. Background technique [0002] Rare diseases are referred to as "rare diseases" for short, also known as "orphan diseases". Most rare diseases are chronic, severe conditions that are often life-threatening. About 80% of rare diseases are caused by genetic defects, so rare diseases generally refer to "rare genetic diseases". According to the report of the World Health Organization (WHO), there are more than 5,000 recognized rare diseases, accounting for about 10% of human diseases; about 50% of rare diseases can occur at birth or in childhood, and the disease often progresses Rapidly, the mortality rate is very high, and most of them still have no effective treatment method, which causes great suffering to the patients. [0003] Rare disease is a relative, dynamic, and changing concept. Different countries and regions in the w...

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Problems solved by technology

[0006] In view of this, the purpose of the embodiment of the present invention is to propose a rare disease case registration method, which can solve the problems of convenient, efficient, comprehensive registration and accurate statistics of rare disease cases that cannot be achieved in the existing technology

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