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The EUROCAt Coding and Calssification Committee in September 2018 agreed on new coding tips. Changes were introduced in Chapter 3.5 [link]



Special Issue of the European Journal of Medical Genetics



We are glad to announce that the Special Issue of European Journal of Medical Genetics containing the article contributions and abstracts from the 14th EUROCAT Scientific Symposium on Congenital Anomalies: “Future Perspectives for Congenital Anomaly Research” is published and available under the link: https://www.sciencedirect.com/journal/european-journal-of-medical-genetics/vol/61/issue/9






Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence. [full text]

Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F.

Epidemiol Prev. 2018 May-Aug;42(3-4S1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057.

EUROCAT: an update on its functions and activities. 

Tucker FD, Morris JK; JRC Management Committee, Neville A, Garne E, Kinsner-Ovaskainen A, Lanzoni M, Loane MA, Martin S, Nicholl C, Rankin J, Rissmann AK.

J Community Genet. 2018 May 7. doi: 10.1007/s12687-018-0367-3






The new EUROCAT Syndrome Guide is available here [link].

The purpose of the guide is to facilitate surveillance, clinical and epidemiological research in the field of rare genetic syndromes. The aim is to help the coders to code properly and with sufficient details rare genetic syndromes, skeletal dysplasias, associations and sequences.  The list of syndromes concentrates on those which are mostly diagnosed in early infancy or prenatally, commonly associated with structural malformations and/or found in the Q-chapter of ICD10/BPA.