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The Dutch uniform multicenter registration system for genetic disorders and malformation syndromes

Authors :
A. Monic N. Zwamborn-Hanssen
Jan B. Bijlsma
Eric F. A. M. Hennekam
Dick Lindhout
Frits A. Beemer
Egbert Bakker
Wim J. Kleijer
Henny F. de France
Christine E. M. de Die-Smulders
Martinus Duran
Albert H. van Gennip
J. Theo van Mens
Peter L. Pearson
Gerrit Mantel
Rob E. Verhage
Joep P. M. Geraedts
Clinical Genetics
Source :
American Journal of Medical Genetics, 70, 444-447. Wiley-Liss Inc.
Publication Year :
1997
Publisher :
Wiley, 1997.

Abstract

In medical genetics, several systems are used to classify and code genetic disorders for the purpose of automated registration. In the Netherlands, a genetic diagnosis code system has been developed that links a unique four-digit code to a principal description and all current synonyms. The main goal of this coding system is to enable nationwide uniformity of coding, without losing access to information stored in the past, identified by the ICD/BPA code (the International Classification of Diseases as adapted by the British Paediatric Association) and/or the MIM code (McKusick's classification in Mendelian Inheritance in Man). To this effect, the Dutch diagnosis code is cross-referenced with the 2 pre-existing classification systems. Developments in medical genetics make regular updates of all coding systems necessary. In the Netherlands, new diagnosis codes are assigned centrally to preserve uniformity and distributed periodically to all 8 clinical genetic centers. Diagnosis codes are assigned in numerical order of inclusion, enabling quick and easy updates. It is possible to include subclassifications of disorders according to pattern of inheritance, gene location, and gene mutations and to cover all disorders and disorder subtypes which are not clearly distinguished by the 2 pre-existing classification systems. The architecture of the coding system is suitable for international use. It offers a practical solution for clinical geneticists in need of a coding system suitable for clinical use. The use of the diagnosis code will also facilitate reliable comparison of data and nationwide genetic epidemiological studies.

Details

ISSN :
10968628 and 01487299
Volume :
70
Database :
OpenAIRE
Journal :
American Journal of Medical Genetics
Accession number :
edsair.doi.dedup.....de8c786f437d0c890fdbe46e5139913a
Full Text :
https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co;2-g