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Icd10 revision process and rare diseases Ségolène Aymé
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tarix | 01.04.2017 | ölçüsü | 445 b. | | #13153 |
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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 - Designated Scientific Group Review
- Systematic reviews
- Scientific, Clinical, Public Health Streams
- Taxonomic rules & definitions
- Open Comments and suggestions
- Periodic Continuous Structured peer review
- 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 - 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
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) HISTIONET ……….
Conclusions 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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