Li Junfeng, Liu Meilin, Li Han, Zhang Xin, Xiang Xufei, Wang Yiping, Wang Shuyi, Han Jinxiang, Lu Yanqin
Key Laboratory for Biotech-Drugs of National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.
Shandong Experimental High School, Ji'nan, China.
Intractable Rare Dis Res. 2024 Nov 30;13(4):213-226. doi: 10.5582/irdr.2024.01061.
Following the release of in May 2018, the Chinese government officially published in September 2023. To date, there is no unified standard and international consensus for rare diseases, and epidemiologic data for most rare diseases in China are lacking. We investigated 86 rare diseases on the second list using Orphanet and other databases to clarify the classification, nomenclature, and epidemiologic data for these diseases, and we summarized the genotype and phenotype of hereditary diseases. The results showed that most of 86 rare diseases were coded in the database of Unified Medical Language System (UMLS), Orphanet, Medical Subject Headings (MeSH) and International Classification of Diseases, Eleventh Revision (ICD-11). Some rare diseases are composed by group of different disorders, in which multiple identifiers existed. Meanwhile, some rare diseases have different subtypes, which correspond to different identifiers. This increases the actual number of rare diseases in the second list. Over 50% of rare diseases are genetic rare diseases and they are mainly classified into neoplastic diseases, transplant-related disorders and neurological diseases. Epidemiologic data indicated that these rare diseases had a broad prevalence spectrum and over 20 rare diseases had a prevalence of over 1/10,000, these rare diseases in the expanded the number and scope of rare diseases according to the China's official definition of rare diseases.
2018年5月发布 后，中国政府于2023年9月正式发布 。迄今为止，罕见病尚无统一标准和国际共识，中国大多数罕见病的流行病学数据也很缺乏。我们使用Orphanet及其他数据库对第二批名单中的86种罕见病进行调查，以明确这些疾病的分类、命名和流行病学数据，并总结了遗传性疾病的基因型和表型。结果显示，86种罕见病中的大多数在统一医学语言系统（UMLS）、Orphanet、医学主题词表（MeSH）和国际疾病分类第十一次修订本（ICD-11）数据库中都有编码。一些罕见病由不同疾病组构成，其中存在多个标识符。同时，一些罕见病有不同的亚型，对应不同的标识符。这增加了第二批名单中罕见病的实际数量。超过50%的罕见病为遗传性罕见病，主要分为肿瘤性疾病、移植相关疾病和神经疾病。流行病学数据表明，这些罕见病的患病率范围广泛，超过20种罕见病的患病率超过1/10,000，第二批名单中的这些罕见病根据中国官方对罕见病的定义扩大了罕见病的数量和范围。
