In order to address this problem we have designed a computerised hierarchical classification of inborn errors where each disorder is given a preferred term and synonyms listed. Each term is mapped to ICD-10 and MuKusick.

As an electronic database different hierarchical levels can be displayed with or without synonyms. Where possible individual disorders are linked to OMIN.

If linked to a patient or laboratory computerised database the classification allows instant retrievals to be made using search strategies to answer questions related to disease groups (such as "how many patients do we have with disorders of fatty acid oxidation?"), or individual disorders ("how many patients do we have with MCAD deficiency?)

At present over 1100 terms are listed within the terminology system which can be readily updated or re-structured as our knowledge base improves.

There is a self-extracting compressed version of the access database (152 kb). There are no specific instructions - we believe the use of the database is self explanatory!

If you have any comments or questions or suggestions please feel free to contact us.
The database will be updated on a regular basis.

Dr John Walter, Chairman, SSIEM Council
Dr GTN Besley, Editor-in-Chief. JIMD