Icd10 revision process and rare diseases Ségolène Aymé

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ICD10 revision process and rare diseases

  • Ségolène Aymé

  • WHO Topic Advisory Group

  • on Rare Diseases

ICD Revisions

ICD Revision Process

  • Drafting

    • Taxonomic Guidelines
    • Definition, Diagnosis and Indexing / mapping guidelines
  • Overall Structure

  • Individual Chapters

  • Overseeing the TOTAL ICD

      • ALPHA Draft – structured comments
      • BETA Draft – field testing
  • Final Draft

ICD Revision Work Streams

  • Scientific Stream

      • Evidence Based Reviews, Meta analyses
      • Surveys,Validation Studies
      • Add-on protocols for existing studies
  • Clinical Stream

      • Clinical utility – linkage to patient reports
      • Treatment Response
      • Phenotypes: gene to behaviour specs
  • Public Health Stream

Core Classification issues

  • Definition of the classification entity:

      • medical disease, disorder (syndrome), injury, sign, symptom, …
  • Clustering of signs, symptoms, & operational features

  • Link to underlying pathophysiology & genetic markers

  • Clinical utility of the classification entity

  • Reliability of the classification entity

  • Validity of the classification entity

  • Separation of disease and disability elements

  • Cultural elements that need to be attended

  • Threshold considerations

  • Other nosological issues relevant to this disorder

ICD Revision Applications

  • As a part of ICD Knowledge Portal three main applications:

  • ICD-10 + Application

  • ICD-11 Draft Creation

  • (ICD – Terminology/Ontology Tools )*

        • Possibly for display – not directly for WEB entry

ICD Revision Applications

  • ICD-10 + Application

    • Designated Scientific Group Review
      • Systematic reviews
        • Scientific, Clinical, Public Health Streams
      • Taxonomic rules & definitions
    • Open Comments and suggestions
      • Periodic Continuous Structured peer review
          • requested by WHO
      • Open to whole world – all users

ICD Revision Applications

    • 2. ICD-11 Draft
    • Codes
      • Inclusions ( all historical links, index terms)
      • Exclusions
    • Definition of the entity
      • Disease, disorder, injury, syndrome, sign, symptom
      • Level of use ( Primary Care, Clinical Care, Research)
      • Glossary description
      • Taxonomic ontology status
    • Diagnostic Criteria for the entity
      • Clinical and/or research rules for diagnosis

Composition of TAG

    • Europe
      • Ségolène Aymé (TAG chair), Ana Rath (Orphanet)
    • North America
      • Stephen Groft (Office of RD-NIH)
      • Roberta Pagon (GeneClinics, University of Seatle)
    • South America
      • Eduardo Castilla (Clearinghouse of birth defects, Brazil)
    • Australia
      • Agnes Bankier (Possum, Murdoch Institute)
    • Asia
      • Hyun-Young Park (NIH, Genetic and rare diseases center, Seoul)

What is ongoing

  • Chapter by chapter comparison between

    • ICD-10
    • Orphanet classification
    • Published classifications (when available)
  • List of proposals for ICD-10+

  • Proposal for ICD-11 for the chapter

    • An information scientist was recruited to assist submitting proposals (contract RDTF secretariat 2009-2011)

Orphanet analysis

  • Lack of systematic approach

    • Classification according to major symptom
    • Classification according to aetiology / mechanism
  • Confusion between anatomy / organs and

  • Systems

  • Respiratory system, cardiovascular system, immunological system……

  • Confusion between « malformation » and « congenital » and « genetic »

Proposal for general principles

Organisation of Chapters

  • By system

    • based on physiology
    • Etiology/mechanism being the final level
    • From the « upper level »  to the « lower level »
  • Addition of a chapter for mutisystemic diseases

    • Ex: Marfan syndrome is a multisystemic disease
  • Chapter for prenatal developmental defects (not only malformation) as in utero development is a process- a « system »)

ICD-11 proposals

  • A dossier with the rationale for proposals is established

  • The definitional items chart (WHO) is fullfilled for each disease

  • The dossier is submitted

    • to identified best experts by Orphanet and by other TAG members
  • A final proposal will be sent to WHO, chapter by chapter, one every month

ICD10+ proposals

  • Each proposal is

    • qualified following the WHO revision tool
    • justified (literature)
  • Orphanet input on the ICD10 revision

    • based on already validated subclassifications
  • Experts for the specialty ( Official networks / Societies / Associations)

    • informed in order to add their contributions to the revision process

Networks of experts in Europe

  • EUROCAT (congenital malformations)

  • ENERCA (congenital anemias)

  • SCN (severe congenital neutropenias)

  • EUROMUSCLENET (myopathies)

  • CAUSE (CHARGE et Usher)

  • EINPRDP (rheumatic paediatric diseases)

  • IDR (immunodeficiencies)

  • TEAM (adult metabolic diseases)

  • European Autism Information System (Autistic disorders)

  • RARECARE (rare cancers)

  • TREAT-NMD (neuromuscular diseases)

  • EUROGLYCANET (glycosilation disorders)

  • GENESKIN (skin genetic diseases)

  • SKINTHERAPY (epidermolysis bullosa)

  • CONTICANET (connective tissue cancers)


  • ……….


  • Possibility to propose a profound evolution of the organisation of chapters II to XVIII

    • With a possible migration of almost all existing codes
    • With a common logics applied to all chapters
    • Putting rare diseases where they should be
      • Everywhere as a lower node
  • Chapter on Haematology is already available

    • Draft proposal by Orphanet to be sent to TAG members for dissemination to experts
    • Please look at our proposals on the WHO website
  • Production of one chapter per month

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