The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Abstract Background Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versio...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-01763-y |
| _version_ | 1818848053669396480 |
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| author | Juan Rico Luis Javier Echevarría-González de Garibay María García-López Sandra Guardiola-Vilarroig Luis Alberto Maceda-Roldán Óscar Zurriaga Clara Cavero-Carbonell |
| author_facet | Juan Rico Luis Javier Echevarría-González de Garibay María García-López Sandra Guardiola-Vilarroig Luis Alberto Maceda-Roldán Óscar Zurriaga Clara Cavero-Carbonell |
| author_sort | Juan Rico |
| collection | DOAJ |
| description | Abstract Background Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versions. In Spain, the ICD-10-ES (stem from the ICD-10-CM–Clinical Modification) is used throughout the National Healthcare System since 2016, indistinctively including rare diseases that often lack a specific code. Orphanet aims to provide high-quality resources on rare diseases. The goal was to interrelate the Orphanet classification with the ICD-10-ES in order to engage a tool to track rare diseases diagnosis and characterize the improvement space for the identification of rare diseases patients in the Spanish Healthcare System. Methods 5775 disorder level ORPHAcodes were mapped to ICD-10-ES codes by comparing the descriptors associated in both classifications. ORPHAcodes were then clustered based on their assigned ICD-10-ES chapter and the redundancy of each individual ICD-10-ES code was calculated by counting the ORPHAcodes they mapped to. Three groups were established: Group 1 (1 ORPHAcode per ICD-10-ES), Group 2 (between 2–49 ORPHAcodes per ICD-10-ES) and Group 3 (≥ 50 ORPHAcodes per ICD-10-ES). Results Equivalences to 1700 ICD-10-ES codes were established for 5664 ORPHAcodes. The ORPHAcodes distribution within the ICD-10-ES showed an aggregation in the “Q” (> 40%), “G” (> 14%), and “E” (12%) chapters. The availability of ICD-10-ES codes to map ORPHAcodes reached its lowest at the “G” and “Q” chapters with less than 0.2 ICD-10-ES codes available per ORPHAcode. Global ICD-10-ES codes redundancy analysis revealed that only 1055 of the equivalences pertain to group 1. Group 2 contained 3358 equivalences with 634 ICD-10-ES codes while 1322 equivalences were group 3 (11 ICD-10-ES). Within ICD-10-ES chapters, “G” and “Q” contained over 30% and 45% of their own equivalences in the highest redundancy level (group 3) respectively, but under 10% one to one equivalences each (group 1). Conclusions ICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases. |
| first_indexed | 2024-12-19T06:11:14Z |
| format | Article |
| id | doaj.art-182ad1398fca4ceb877ea58695f2dddf |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-19T06:11:14Z |
| publishDate | 2021-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-182ad1398fca4ceb877ea58695f2dddf2022-12-21T20:32:59ZengBMCOrphanet Journal of Rare Diseases1750-11722021-03-0116111310.1186/s13023-021-01763-yThe interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseasesJuan Rico0Luis Javier Echevarría-González de Garibay1María García-López2Sandra Guardiola-Vilarroig3Luis Alberto Maceda-Roldán4Óscar Zurriaga5Clara Cavero-Carbonell6Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencia RegionDirectorate for Healthcare Planning, Organization and Evaluation, Registries and Health Information Unit, Ministry of Health of the Basque GovernmentRare Diseases Registry, Public Health Office, Castilla and León GovernmentRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencia RegionMurcia Region Rare Diseases Information System, Murcia Regional Health CouncilRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencia RegionRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencia RegionAbstract Background Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versions. In Spain, the ICD-10-ES (stem from the ICD-10-CM–Clinical Modification) is used throughout the National Healthcare System since 2016, indistinctively including rare diseases that often lack a specific code. Orphanet aims to provide high-quality resources on rare diseases. The goal was to interrelate the Orphanet classification with the ICD-10-ES in order to engage a tool to track rare diseases diagnosis and characterize the improvement space for the identification of rare diseases patients in the Spanish Healthcare System. Methods 5775 disorder level ORPHAcodes were mapped to ICD-10-ES codes by comparing the descriptors associated in both classifications. ORPHAcodes were then clustered based on their assigned ICD-10-ES chapter and the redundancy of each individual ICD-10-ES code was calculated by counting the ORPHAcodes they mapped to. Three groups were established: Group 1 (1 ORPHAcode per ICD-10-ES), Group 2 (between 2–49 ORPHAcodes per ICD-10-ES) and Group 3 (≥ 50 ORPHAcodes per ICD-10-ES). Results Equivalences to 1700 ICD-10-ES codes were established for 5664 ORPHAcodes. The ORPHAcodes distribution within the ICD-10-ES showed an aggregation in the “Q” (> 40%), “G” (> 14%), and “E” (12%) chapters. The availability of ICD-10-ES codes to map ORPHAcodes reached its lowest at the “G” and “Q” chapters with less than 0.2 ICD-10-ES codes available per ORPHAcode. Global ICD-10-ES codes redundancy analysis revealed that only 1055 of the equivalences pertain to group 1. Group 2 contained 3358 equivalences with 634 ICD-10-ES codes while 1322 equivalences were group 3 (11 ICD-10-ES). Within ICD-10-ES chapters, “G” and “Q” contained over 30% and 45% of their own equivalences in the highest redundancy level (group 3) respectively, but under 10% one to one equivalences each (group 1). Conclusions ICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases.https://doi.org/10.1186/s13023-021-01763-yRare diseasesICD-10-ESORPHAcodeDiagnosesCodificationHealthcare |
| spellingShingle | Juan Rico Luis Javier Echevarría-González de Garibay María García-López Sandra Guardiola-Vilarroig Luis Alberto Maceda-Roldán Óscar Zurriaga Clara Cavero-Carbonell The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases Orphanet Journal of Rare Diseases Rare diseases ICD-10-ES ORPHAcode Diagnoses Codification Healthcare |
| title | The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases |
| title_full | The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases |
| title_fullStr | The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases |
| title_full_unstemmed | The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases |
| title_short | The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases |
| title_sort | interoperability between the spanish version of the international classification of diseases and orphacodes towards better identification of rare diseases |
| topic | Rare diseases ICD-10-ES ORPHAcode Diagnoses Codification Healthcare |
| url | https://doi.org/10.1186/s13023-021-01763-y |
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