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WHY ORPHAcoding vs Other Termin

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WHYORPHAcodingF O R R A R E D I S E A S E S T O C O U N T W EN E E D T O C O U N T R A R E D I S E A S E S@orphanet @ORPHAcodesCo-Funded by the European Union. Views and opinions expressed are however those of the author(s)only and do not necessarily reflect those of the European Union or HADEA. Neither the European Unionnor the granting authority can be held responsible for them

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ICD-10: ~83% of RD do not have any code*ICD-11: ~37% of RD do not have any code* SNOMED CT: 7% of RD do not have any code* None of these terminologies have a code for the patients in a diagnostic dead-end/undiagnosed RD patientsUnderrepresentedImpreciseRARE DISEASES ARE NOT VISIBLEWHEN USING GENERICTERMINOLOGIES ONLY ICD-10: 93 % of RD do not have a PRECISE code* ICD-11: 75 % of RD do not have a PRECISE code* SNOMED CT: 7 % of RD do not have a PRECISE code*RD are "lost" amongst common diseasesGeneric terminologies are not exploitable for RD-specific statisticsNot classified as “rare”*All figures presented are exact as of 01 September 2023. .

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UNMET RARE DISEASE PATIENTS’ NEEDS & INEFFICIENT HEALTHCARE PLANNING Impaired capacity of Healthcare Systems to addressthe SPECIFIC NEEDS of these patients, many of whichare vital RD diagnoses cannot betraced precisely Not all RD diagnoses aretraceable Inadequate health planning for RD diagnoses andundiagnosed patients that cannot be represented bygeneric terminologies Limited healthcare monitoring in regard to a given RD Difficult & time consuming to produce RD indicatorsor a group of RD, or RD as a whole. including ERNs‘ evaluations or contributions to epidemiological knowledge....Lost amongst commondiseases

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ALL RD diagnoses are represented in ORPHAcodesincluding the undiagnosed They provide accurate representation of thecurrent knowledge and meet coders’ needs*100% of RDrepresentedPrecise ORPHACODES MAKERARE DISEASES VISIBLEORPHAcodes include each RD, including subtypes ofdiseases; this will ensure that ALL PATIENT NEEDSare met including the very specific onesThe specific RD-specific classification system allowseffective healthcare monitoring with regard to a givenRD, group of RD, or RD as a whole, by facilitating theproduction of indicators. Classified... alongside the generic termi nology in use *thanks to ERNs and international experts’ feedback and OD4RDcurrent work (

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to facilitate data re-use in systematic collections(registries) for research and innovationto facilitate identification of patients suitable forintegration in a clinical study including thoseundiagnosedto achieve critical mass of data and so contribute to economical and societal impact of the specific RD or group of disease or all RD and contribute to epidemiological knowledge and/or provide exact figures for pharmaceutical developments or negotiations as well as one behindTo ensure that all RD are visible and that we leave To allow data to be interoperable between systems and countriesORPHAcodes are aligned to the main generic terminologies so that you can retrieve thecorresponding generic code (transcoding) without additional burden ORPHACODES Implementation in Health Records to ensure adequate healthcare for ALL RD patients to ensure adequate continuity of healthcareto improve evaluation and compensation of possibledisabilitiesto facilitate health planningto contribute to assessing healthcare performance,resource allocation and outpatient and inpatient-relatedactivities on rare diseases, including for ERN evaluations even when traveling abroad and in unplanned emergency situations wi t h a utom ati c tr ansc odi ng t o th e g ener ic t erm inol ogy in useTools and services are availabl e tofacilitate technical implementa tionand alleviate burden on

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ABOUT ORPHACODES"Addition of ORPHAcodes to eHealth records would allow RDcases to be reported and costed easily." Gunne et al. 2020. A retrospective review of the contribution of rare diseases topaediatric mortality in Ireland"ICD-10-ES codes have not enough specificity to identify rarediseases. Direct mapping between ICD and ORPHAcodes or theintegration of ORPHAcodes at the healthcare system fordiagnoses codification would enable better detection andepidemiological analysis of rare diseases"Rico et al 2021. The interoperability between the Spanish version of the ICD andORPHAcodes: towards better identification of RD"ORPHAcodes were found to be a versatile resource for the coding of RD,able to assure easiness of use and inter‑country comparability acrosspopulation and hospital databases."Mazzucato et al. 2023. ORPHAcodes use for the coding of rare diseases: comparison of theaccuracy and cross country comparability" Cross referencing between ICD-10 and ORPHAcodes maybe adopted in different healthcare datasets forinternational comparison."Chiu et al 2018. Healthcare burden of RD in Hong Kong adoptingORPHAcodes in ICD-10 based Healthcare administrative datasetsORPHAcodes are the recommended code to trace RD diagnosesGuidelines on Patient Summary, Release 3.2, Mar 2022 & Recommendation on ways to improve codification for rare diseases in health informationsystems (2014) European Commission Expert Group on Rare Diseases 2014 & European Common Semantic Strategy 2019 ORPHAcodes are listed in the set of common data elements for Rare Diseases Registration released by the EU RD platform to ensure interoperability between registries ORPHAcodes are identified as a best practice by the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable DiseasesX-eHealth project work has shown that the use of the EEHRxF to populate patient registries is highly recommended to lower the efforts involvedin maintaining the registries, (D8.5 – EEHRxF as Infrastructure for Innovation)