Based on the hospital information system, the outpatient visits of children with diseases included in the two batches of the rare disease catalogs from January 2018 to December 2023 at our center were retrieved and analyzed.

A total of 93 602 outpatient visits of children with rare diseases were recorded, accounting for 0.71% of the total outpatient admissions during the same period. Among the diseases included in the two batches of the rare disease catalogs, 129 disease types were admitted, with a disease coverage rate of 62.32% (129/207). Specifically, 83 disease types (83/121, 68.60%) from the first batch of the catalog were admitted, with a total of 18 454 outpatient visits, showing an increasing trend year by year; 46 disease types (46/86, 53.49%) from the second batch of the catalog were admitted, with a total of 75 148 outpatient visits. The department of neurology admitted the most disease types, with a total of 54 types (54/207, 26.09%). Outpatient visits for single disease types exhibited multi-specialty characteristics, with 51.21% of the cases involving two or more specialties.

Our center has admitted a relatively large number of children with rare diseases, covering most of the disease types that onset during childhood in the two batches of catalogs. There are obvious multi-specialty characteristics in outpatient admissions. The study results can provide data support for further optimizing the outpatient admission process for children with rare diseases and reasonably setting up multidisciplinary outpatient services.