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Direct link to this page: http://www.eurocat-network.eu/homepage

 

PUBLICATION OF THE UPDATED EUROCAT PREVALENCE TABLES

 

You can find the updated prevalence tables up to birth year 2016 here.

 

 

 

45th  ICBDSR Annual Meeting

The 45th  ICBDSR Annual Meeting will be held in Prague, Czech Republic,  from September 30 to October 3, 2018. You can find the programme here and more information on ICBDSR website.

 

 

 

UPDATES OF EUROCAT GUIDE

  • New variable (ORPHA) added in Chapter 2.2.1a [link] and 2.2.1b [link]

 

 

NEW PUBLICATION

 

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

EUROCAT: an update on its functions and activities.

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

 


PUBLICATION OF THE NEW EUROCAT SYNDROME GUIDE

 

In the dedicated section of EUROCAT Website the new EUROCAT Syndrome Guide is available [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.