1 / 16

Rare Diseases TAG feedback on ICD revision First year: 2009-2010

Rare Diseases TAG feedback on ICD revision First year: 2009-2010. iCamp2 – WHO headquarters, Geneva 27 September – 1st October 2010. Work repartition between TAGs. Rare Diseases TAG workflow. RD TAG’s current and provisional schedule. White areas indicate ongoing or finished tasks.

lynsey
Download Presentation

Rare Diseases TAG feedback on ICD revision First year: 2009-2010

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Rare Diseases TAG feedbackon ICD revisionFirst year: 2009-2010 iCamp2 – WHO headquarters, Geneva 27 September – 1st October 2010

  2. Work repartition between TAGs

  3. Rare Diseases TAG workflow

  4. RD TAG’s current and provisional schedule White areas indicate ongoing or finished tasks. Shaded areas indicate tasks still to be completed.

  5. People in the Rare Diseases TAG • The Rare Diseases TAG ischaired by Ségolène Aymé. • Revisionproposals are prepared and sent for review to experts in Europe by Ana Rathand Bertrand Bellet. • TAG membersin charge with contacting experts in their respective geographical areas to have proposals reviewed: • Eduardo Castilla(Brazil) • EvgenyGinter(Russia) • Stephen Groft(United States) • Julie McGaughran(Australia) • Carmencita Padilla (Philippines) • Marion Williams (Canada)

  6. Invited experts for all chapters All ICD revision proposals for Rare Diseases are sent for information and review to the following people and institutions: • For the European Union Committee of Experts on Rare Diseases: Mr. Andrew Devereau (United Kingdom), Dr. Shane McKee (United Kingdom), Dr. DomenicaTaruscio (Italy), Mrs. AnnetSollie (Netherlands), Mr. Oscar Zurriaga (Spain) • For the European Medicines Agency’s Committee for Orphan Medicinal Products: Dr. JordiLlinares-Garcia • For the Paediatric Chairs of Canada : Dr. Robert Armstrong , Dr. Jim Kellner, Dr. William Bingham, Dr. Cheryl Rockman-Greenberg, Dr. Guido Filler, Dr. Lennox Huang, Dr. Denis Daneman, Dr. Sarah Jones, Dr. Joseph Reisman, Dr. Bruno Piedboeuf, Dr. Harvey Guyda, Dr. Marc Girard, Dr. HerveWalti, Dr. Jonathan Kronick, Dr. Cathy Vardy • For the National Center for Research Resources (United States): Dr. Barbara Alving • For the National Library of Medicine(United States): Dr. Donald Lindbergh, Ms. Betsy Humphreys • For the National Institute of HealthClinical Center Hospital(United States): Dr. John Gallin

  7. Invited expert networks by specialty (1) Contact was made with the following heads of scientific and medical networks (Boldface indicates that comments have already been received): • Haematology: Pr. Joan Lluís Vives Corrons (ENERCA), Pr. Flora Peyvandi (Rare Blood Diseases Database), Dr. Donna DiMichele (National Heart, Lung and Blood Institute, United States) • Metabolism: Dr. Mick Henderson & Dr. James Bonham (ERNDIM), Dr. Bryan Winchester (ESGLD), Mr. H. Stroomer (Eumitocombat), Pr. Gert Matthijs (Euroglycanet), Pr. Manuel Palacín Prieto (EUGINDAT), Pr. Jean-Charles Deybach (European Porphyria Network), Pr. Paula Saftig (HUE-MAN), Mrs. Rosy Engelen (Mitocircle), Dr. Guy Besley (Society for the study of inborn errors of metabolism), Dr. John Walter (British Inherited Metabolic Diseases Group), Dr. Robert Naviaux (United Mitochondrial Diseases Foundation) • Immunology: Pr. Mauro Vihinen (Information Network for Immunodeficiencies), Pr. Stephan H. E. Kaufmann (European Federation of Immunological Societies), David Watters (International Patient Organisation for Primary Immunodeficiencies)

  8. Invited expert networks by specialty (2) • Neurology: Pr. Volker Straub & Pr. Kate Bushby (TREAT-NMD), Dr. Solomon Moshe (International League Against Epilepsy), Pr. Barbara Wilson (Encephalitis Society), Pr. José Ferro (European Neurological Society), Dr. Robin Grant (European Association of Neurooncology), Pr. Robert Ouvrier (International Child Neurology Association), Dr. Gemma Gatta(Rarecare), Dr. Alexandra Dürr (Spatax), Pr. Alastair Compston (Association of British Neurologists), Dr. Petra Kauffman (National Institute of Neurological Disorders and Stroke, United States) • Infectiology and Allergology: Dr. Anthony Fauci (National institute of Allergy and Infectious Diseases, United States) • Gastroenterology, Nephrology, Diabetes: Dr. Griffin Rogers (National Institute of Diabetes, Digestive and Kidney Diseases, United States) • Rheumatology and Dermatology: Dr. Stephen Katz (National Institute of Arthritis, Musculoskeletal and Skin Diseases, United States) • Paediatrics: Dr. Alan Guttmacher (National Institute of Child Health and Human Development, United States)

  9. Invited individual experts by specialty (1) Boldface indicates that comments have already been received. • Haematology: Dr. Dieter Lutz (Austria), Dr. Henrik Birgens (Denmark), Dr. Vessela Goranova (Bulgaria), Dr. Michael Leaker (Canada) , Pr. Frédéric Galacteros (France), Pr. Hubert Schrezenmeier (Germany), Dr. Panayiotis Tsaftaridis (Greece), Dr. Paquita Nurden (France), Pr. Robin Foà (Italy), Dr. Ecaterina Hanganu (Romania), Dr. Michel Duchosal (Switzerland), Pr. Teoman Soysal (Turkey), M.D. Inderjeet Dokal (United Kingdom), • Immunology: Pr. Alain Fischer (France), Pr. Luigi Daniele Notarangelo (United States), Pr. Mariana Murdjeva (Bulgaria), , Dr. Reza Alizadehfar (Canada), Dr. Christine McCusker (Canada), Dr. Nada Jabado (Canada)Pr. Hans-Hartmut Peter (Germany), Dr. Eugen Carasevici (Romania), Dr. Rahim Chaitov (Russia), Dr. Miguel Lopez-Botet (Spain), Pr. Günnür Deniz (Turkey), Pr. Helen Chapel (United Kingdom) • Endocrinology: Pr. Sebastiano Filetti (Italy), Pr. Sabina Zaharieva (Bulgaria), Pr. Nikolai Botushanov (Bulgaria), Dr. Marta Šnajderová (Czech Republic), Dr. Vallo Tillman (Estonia), Dr. Kirsti Näntö-Salonen (Finland), Pr. Philippe Chanson (France), Pr. Maïthé Tauber (France), Dr. Felix Beuschlein (Germany), Dr. Catherine Dacou-Voutetakis (Greece), Dr. Evangelina Vasilatou (Greece), Dr. Marco Cappa (Italy), Pr. Vincenzo Trischitta (Italy), Pr. Sebastiano Filetti (Italy), Pr. Jolanta Sykut-Cegielska (Poland), Dr. Eusebiu Zbranca (Romania), Dr. Anatoly Tiulpakov (Russia), Pr. Susana Webb Youdale (Spain), Pr. Angel Carrascosa (Spain), Dr. Rüveyde Bundak (Turkey), Pr. Julian Davis (United Kingdom), Pr. Gary Butler (United Kingdom), Dr. Celia Rodd (Canada), Dr. David Stephure (Canada)

  10. Invited individual experts by specialty (2) • Metabolism: Dr. Wolfgang Sperl (Austria), Pr. George van den Berghe (Belgium), Pr. François Eyskens (Belgium), Dr. Jiří Zeman (CzechRepublic), Pr. Pascale de Lonlay (France), Pr. Jean-Marie Saudubray (France), Pr. Udo Wendel (Germany), Dr. Carlo Dionisi-Vici (Italy), Pr. Jan Smeitink (Netherlands), Pr. Paula Grigorescu-Sido (Romania), Dr. Teresa Pàmpols Ros (Spain), Dr. Ekaterina Zakharova (Russia), Dr. Ali Dursun (Turkey), Dr. Eduardo Wraith (United Kingdom), Pr. James V. Leonard (United Kingdom), Dr. Neil Buist (United States),Dr. Susan Winter (United States) • Nutrition: Dr. Jeff Critch (Canada), Dr. Stephanie Atkinson (Canada), Dr. Veronique Anne Pelletier (Canada), Pr. Victor Tutelian (Russia) • Neurology: Pr. Franz Aichner (Austria), Dr. Pavel Balabanov (Bulgaria), Pr. VenetaBojinova (Bulgaria), Pr. ParaskevaStamenova (Bulgaria), Pr. Tat’ánaMaříková (CzechRepublic), Dr. John Vissing (Denmark), Dr. AnneliKolk (Estonia), Dr. Valentin Sander (Estonia), Dr. SulevHaldre (Estonia), Dr. Katrin Gross-Paju (Estonia), Dr. TiinaTalvik (Estonia), Dr. AkiHietaharju (Finland), Pr. Juha E. Jääskeläinen (Finland), Dr. TiinaTyni (Finland), Pr. Philippe Coubes (France), Pr. Olivier Dulac (France), Pr. Bruno Eymard (France), Pr. Bertrand Fontaine (France), Dr. Thomas Klockgether (Germany), Pr. Thomas Voit (Germany), Dr. SotiriaMastroyianni (Greece), Dr. SámualKomoly (Hungary), Dr. Richard Petty (Ireland & United Kingdom), Dr. Enrico Bertini (Italy), Dr. Luciano Merlini (Italy), Pr. Francesco Muntoni (Italy), Dr. Enza Maria Valente (Italy), Pr. ValmantasBudrys (Lithuania), Pr. MildaEndziniene (Lithuania), Pr. Marianne De Wisser (Netherlands), Pr. FeliciaStefanache (Romania), Pr. Sergei Illarioshkin (Russia), Pr. Jaime Campos-Castello (Spain), Dr. Hand Jung (Switzerland), Pr. PirayeSerdaroglu (Turkey), Dr. Michael Shevell (Canada), Dr. MyriamSrour (Canada), Dr. Karen Barlow (Canada)

  11. The iCAT

  12. Entering proposals into the iCAT: feedback • The toolis user-friendly and easy to use, but lacks crucial features: • Insufficientsearchengine: itmostlyretrievesentitesalreadypresent in ICD10) • No management of duplicates: no way to automaticallyretrieveentiteswithsimilartitles or synonymes; no warning whenyouattempt to create an entitytoosimilar to an alreadyexisting one • Difficultwatchingfor the Rare Diseases TAG because of the quantity of data, as we have mostchapters to examine. Modifications oftenappeardrownedamongourown contributions • No free export of a classification fragment so as to easilysubmitit to experts

  13. Entering proposals into the iCAT: feedback • Entering must be made by hand; itistechnically possible to import Excel spreadsheets, but the risk of creating duplicates or erasing the contributions of other editors istoohigh to makeit usable now. • Currently, the Rare Diseases TAG works on : • structure and hierarchy (especiallycreatingnumerous new entities) • definitions (summariesextractedfrom the Orphanet database, whenavailable) • synonyms • inclusion terms (rarely) • exclusion terms • Suggestions for linearisations are alsoincluded, as notes; the dedicated tab is not used (workassignment on this must beprecised)

  14. Filling the content model

  15. Importing Orphanet data into the iCAT • Much of the information needed to fill the content model in the iCAT is available for rare diseases as structured information in Orphanet’s database. • Typing of entities (in development in Orphanet) • Definitions (from Orphanet summaries) • Synonyms • Genes • Clinical signs (have to be mapped with SNOMED-CT concepts) • Mapping relationships with other databases • ICF correspondances for functional impact

  16. Importing Orphanet data into the iCAT • Import of data should therefore be envisioned • This requires unique, stable identifiers for every entity • In Orphanet’s database. these are Orpha numbers; they should be mapped with unique identifiers planned in the content model. • These date need to be regularly updated: how is it to be organised? • For rare diseases, a regular export of Orphanet updates could be planned, with a systematic, predefined request. • What should be the periodicity of such an update?

More Related