Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue.
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| Title: | Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue. |
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| Authors: | Bai X; Collaborating Center for the WHO Family of International Classifications in China, Beijing, China.; Department of Medical Records, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Guo J; The Administrative Group of National Rare Diseases Registry System of China, Beijing, China., Zhang M; Collaborating Center for the WHO Family of International Classifications in China, Beijing, China.; Department of Medical Records, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Wang Y; Collaborating Center for the WHO Family of International Classifications in China, Beijing, China.; Department of Medical Records, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Li N; Department of Medical Records, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. LNS@medmail.com.cn.; State Key Laboratory of Complex Severe and Rare Diseases, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China. LNS@medmail.com.cn. |
| Source: | BMC medical informatics and decision making [BMC Med Inform Decis Mak] 2025 Dec 03; Vol. 25 (1), pp. 440. Date of Electronic Publication: 2025 Dec 03. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101088682 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6947 (Electronic) Linking ISSN: 14726947 NLM ISO Abbreviation: BMC Med Inform Decis Mak Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : BioMed Central, [2001- |
| MeSH Terms: | International Classification of Diseases*/standards , Rare Diseases*/epidemiology , Rare Diseases*/classification , Clinical Coding*/standards , Registries*/standards, Humans ; China/epidemiology ; Reproducibility of Results ; East Asian People |
| Abstract: | Introduction: Epidemiological data on rare diseases (RDs) affect the accurate scientific assessment of these diseases and lead to many issues in policy-making, healthcare systems, and legislation. The coding system is crucial for accurately identifying and calculating the incidence rates of each RD. This study focuses on the effectiveness of collecting RD data via the ICD-11 and examines whether the ICD-11 can fully support RD statistics. The findings of this study should provide a foundation for replacing the ICD-10 with the ICD-11. Methods: This study included 121 RDs from the first "Rare Disease Catalogue"in China. The diseases were recoded independently by two experts in the ICD-11 MMS. A comparative analysis was conducted on the distributions of chapters, code types, and index terms in the ICD-10 and ICD-11 MMS. Results: This study analysed 121 rare diseases (RDs) from China's first Rare Disease Catalogue. These RDs mapped to 204 ICD-10 codes (1.4% of all codes), including 76 (37.3%) non-index terms, and to 171 ICD-11 MMS codes (0.96% of all codes). The proportion of RD codes was significantly lower in ICD-11 than in ICD-10 (0.96% vs. 1.4%, P < 0.001), indicating greater dilution of RDs in ICD-11. All ICD-11 MMS codes were indexed (100% vs. 62.7% in ICD-10, P < 0.001), and 51 ICD-11 MMS codes (29.8%, P < 0.001) provided more detailed classifications. When using the ICD-11 to code RDs for subsequent statistical analyses, it is recommended that a network system of RD index terms be established in advance. Conclusion: The ICD-11 can replace the ICD-10 for coding RDs. However, many RD terms do not have accurate codes and must be uniquely identified with URIs in the ICD-11. To ensure the reliability of RD-related data, establishing a local RD database for reporting data via the ICD-11 in China is essential. (© 2025. The Author(s).) |
| References: | Hum Gene Ther. 2018 Feb;29(2):128-135. (PMID: 29284292) Orphanet J Rare Dis. 2024 Sep 11;19(1):334. (PMID: 39261914) J Am Med Inform Assoc. 2023 Sep 25;30(10):1614-1621. (PMID: 37407272) Am J Med Genet A. 2019 Jun;179(6):885-892. (PMID: 30883013) Lancet. 2025 Feb 22;405(10479):605-607. (PMID: 39914437) Orphanet J Rare Dis. 2019 Jul 1;14(1):160. (PMID: 31262329) Eur J Hum Genet. 2020 Feb;28(2):165-173. (PMID: 31527858) J Am Med Inform Assoc. 2024 Apr 19;31(5):1084-1092. (PMID: 38427850) J Inherit Metab Dis. 2018 May;41(3):563-569. (PMID: 29600497) Pract Neurol. 2021 Oct;21(5):412-423. (PMID: 34108243) J Multidiscip Healthc. 2023 Aug 04;16:2233-2249. (PMID: 37560408) J Am Med Inform Assoc. 2021 Oct 12;28(11):2346-2353. (PMID: 34472597) Orphanet J Rare Dis. 2015 Mar 26;10:35. (PMID: 25887186) Nat Rev Endocrinol. 2015 Sep;11(9):547-64. (PMID: 26194704) Orphanet J Rare Dis. 2021 Mar 9;16(1):121. (PMID: 33750434) J Am Med Inform Assoc. 2021 Oct 12;28(11):2404-2411. (PMID: 34383897) Nat Rev Drug Discov. 2020 Feb;19(2):77-78. (PMID: 32020066) |
| Grant Information: | 2022-PUMCH-A-084 National High Level Hospital Clinical Research Funding |
| Contributed Indexing: | Keywords: Coding completeness; ICD-11; Rare disease; Statistics |
| Entry Date(s): | Date Created: 20251204 Date Completed: 20251204 Latest Revision: 20251206 |
| Update Code: | 20251206 |
| PubMed Central ID: | PMC12676748 |
| DOI: | 10.1186/s12911-025-03275-2 |
| PMID: | 41340132 |
| Database: | MEDLINE |
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Nájsť tento článok vo Web of Science | Abstract: | Introduction: Epidemiological data on rare diseases (RDs) affect the accurate scientific assessment of these diseases and lead to many issues in policy-making, healthcare systems, and legislation. The coding system is crucial for accurately identifying and calculating the incidence rates of each RD. This study focuses on the effectiveness of collecting RD data via the ICD-11 and examines whether the ICD-11 can fully support RD statistics. The findings of this study should provide a foundation for replacing the ICD-10 with the ICD-11.<br />Methods: This study included 121 RDs from the first "Rare Disease Catalogue"in China. The diseases were recoded independently by two experts in the ICD-11 MMS. A comparative analysis was conducted on the distributions of chapters, code types, and index terms in the ICD-10 and ICD-11 MMS.<br />Results: This study analysed 121 rare diseases (RDs) from China's first Rare Disease Catalogue. These RDs mapped to 204 ICD-10 codes (1.4% of all codes), including 76 (37.3%) non-index terms, and to 171 ICD-11 MMS codes (0.96% of all codes). The proportion of RD codes was significantly lower in ICD-11 than in ICD-10 (0.96% vs. 1.4%, P < 0.001), indicating greater dilution of RDs in ICD-11. All ICD-11 MMS codes were indexed (100% vs. 62.7% in ICD-10, P < 0.001), and 51 ICD-11 MMS codes (29.8%, P < 0.001) provided more detailed classifications. When using the ICD-11 to code RDs for subsequent statistical analyses, it is recommended that a network system of RD index terms be established in advance.<br />Conclusion: The ICD-11 can replace the ICD-10 for coding RDs. However, many RD terms do not have accurate codes and must be uniquely identified with URIs in the ICD-11. To ensure the reliability of RD-related data, establishing a local RD database for reporting data via the ICD-11 in China is essential.<br /> (© 2025. The Author(s).) |
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| ISSN: | 1472-6947 |
| DOI: | 10.1186/s12911-025-03275-2 |