NGRL Manchester is a participant in the Rare Diseases Task Force (RDTF) scientific support project on behalf of the UKGTN.

Funding has been secured to support coding and classification of rare diseases by the RDTF:  rare diseases will be identified and coded as part of the WHO revision of  Version 10 of the International Classification of Diseases code list (ICD-10) towards version 11. 

Our contribution involves cross-referencing these diseases into other coding systems including SNOMED-CT (Systematised Nomenclature of Medicine Clinical Terms), MedDRA (Medical Dictionary for Regulatory Activities) and MeSH (Medical Subject Headings) terms. The aim is to improve coding of rare diseases in existing information systems which will be released in a user friendly format to optimise use by clinical scientists.

The programme continues until 31st December 2012. We have completed the assembly of an ontology based on the Orphanet classification of diseases and identified structural issues. In 2010 we will be developing and testing cross-referencing methodologies. 

Rare Disease Task Force

The RDTF advises and assists the European Commission Public Health Directorate in promoting the optimal prevention, diagnosis and treatment of rare diseases in Europe. It also provides a forum for discussion and exchange of views and experience on all issues related to rare diseases.

Coding in Health Informatics

Coding of clinical information into a format suitable for use in computer systems is a key aspect of health informatics, and one that has long been a concern in genetics. ICD-10 provides codes for the reporting of diseases, divided into broad categories which provide insufficient detail to represent rare conditions. SNOMED-CT is a systematic medical nomenclature system which is mandated for use within NHS IT systems. It is suspected to be relatively under-developed for genetic terminology, but it is so large and complex that an assessment of its contents is extremely difficult without  the  specific skills and resources  that this project will provide.   The project will further provide the ability to revise the genetic content of SNOMED-CT to ensure that the needs of clinical and diagnostic services are represented.