1. An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR https://spainrdr.isciii.es Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III TASK 7.1. Operational list of RDs based on several classifications and coding systems Years: Dec, 2011-Dec, 2013 (2012-2014)

2. RD list and classification SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Background REpIER ICD list (2003) List modifications/changes (now): - Research, RD Registry (Autonomous Communities) ICD9

3. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Background REpIER ICD list (2003) List modifications/changes (now): - Research, RD Registry - RD Research, Codification and Registry (IIER) ICD9CM – ICD10 – Orphanet - OMIM RD list and classification

4. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Aim To develop an operational RD list based on ICD9-CM and ICD10, in order to retrieve information from National Health System (SpainRDR consensus) CODING vs RETRIEVAL RD list and classification

5. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC 879 876 934 PMT removed (3) CCAA - removed + added ICD9-CM list (8 th edition) ICD9-CM LIST IDC9 codes specific for RD Methodology 1. Systematic review ICD9-CM - Exclusion criteria: Infectious and Parasitic Diseases (I), Neoplasms (II) - Inclusion criteria: Chapters III to XVII 2. Differences between operative lists: Andalucía, Murcia and Extremadura 3. Cleaning data 4. Remove of generic or inespecific codes 5. Changes suggested by PMT and CCAA 6. Changes suggested by PMT and CCAA after pilot study PILOT STUDY

6. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC 1370 xx + - Changes after Pilot study ICD10 LIST IDC10 codes specific for RD Methodology 1. Systematic review IC10 - Exclusion criteria: Infectious and Parasitic Diseases (I), Neoplasms (II) - Inclusion criteria: Chapters III to XVII 2. Cleaning data 3. Remove of generic or inespecific codes 4. Changes suggested by PMT and CCAA after pilot study

7. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC 1499 correlations ICD9-ICD10 (934 ICD9 codes) A) Specific ICD9-CM codes to ICD10B) Specific ICD10 codes to ICD9-CM 1789 correlations ICD10-ICD9 (1325 ICD10 codes) ¿Is ICD10 also a RD-specific code? 250 UNSPECIFIC correlations (224 ICD9) 1305 RD-SPECIFIC correlations (73%) (1045 ICD10 codes) 596 codes 1->1 142 codes 1->n 902 codes 1->1 143 codes 1->n 211 codes 1->1 13 codes 1->n 275 codes 1->1 64 codes 1->n 484 UNSPECIFIC correlations (339 ICD10) NOTE: “RD-SPECIFIC correlation” means that both ICD9 and ICD10 codes are specific for one RD or a group of RD ¿Is ICD9 also a RD-specific code? NO YES 1249 RD-SPECIFIC correlations (83%) (738 ICD9 codes) Correlations

8. OTHER LISTS x Congenital Anomalies Tumours Chronic Renal Diseases – patients undergo treatment due to chronic renal insufficiency Orphan Drugs http://www.eurocat-network.eu/ http://www.rarecare.eu/ Only those congenital anomalies included in SpainRDR - ICD9 list SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

9. Tumours http://www.rarecare.eu/ The RARECARE list: SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

10. Tumours http://www.rarecare.eu/ CHANGES: Some rare tumours were included (even when they were part of a common tumour group) C2Adenocarcinoma with variants of pancreas7.59 rare3 Adenocarcinoma NOS3.99 rare3 Mucinous adenocarcinoma0.01 rare3 Undifferentiated carcinoma0.08 rare3 Signet ring cell carcinoma0.02 rare3 Adenosquamous carcinoma0.02 C 2Squamous cell carcinoma with variants of lung 13.49 3 Squamous carcinoma13.36 rare3 Papillary squamous cell carcinoma0.01 rare3 Basaloid squamous cell carcinoma<0.01 rare 3 Squamous cell carcinoma small cell nonkeratinizing 0.10 rare3 Squamous cell carcinoma clear cell type<0.01 SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Retrieval from cancer registries

11. Renal diseases Renal Registries – chronic kidney disease patients who undergo treatment ERA-EDTA Registry is a European Registry collecting data on renal replacement therapy

12. Renal diseases Renal Registries – chronic kidney disease patients who undergo treatment Mapping old to new ERA- EDTA codes

13. Selection of RD from Renal Registries – chronic kidney disease patients who undergo treatment PMT (Óscar Zurriaga): 40 diseases (full term) selected as RD IIER: 43 diseases selected as RD Renal diseases 8 11 32 37 PMT IIER SpainRDR Old EDTA codes New codes ICD10 SNOMED-CT SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

14. Orphan Drugs ICD9 with BPA extension http://www.emea.europa.eu/ema/ SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

15. Orphan Drugs 45 selected from 67 authorized orphan drugs Exclusion criteria: antitumoural treatment (exclusively), unspecific drugs Drugs coded into ICD10 (according to main drug indication)

16. Codification of diseases Patient Registries Disorders of sex development (>40 diseases) Proteinosis Paediatric interstitial lung diseases (>60) Alfa- I antitrypsin deficiency Sarcoidosis McArdle disease Hereditary ataxias and paraparesia (>200, ongoing) … and more SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC ICD10 ICD9-CM Orphan OMIM

17. Thank you very much! SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Participants IIER PMT All Autonomous Communities