2023-09-25 Trisomy 29 - Response 1

[mortality-forum]

Hi everyone,

 Can anyone confirm the following coding selections for Trisomy 29?

 ICD-11

  http://id.who.int/icd/entity/1767246611

 3q29 duplication

  LD41.20 Duplications of the long arm of chromosome 3

 Foundation URI : http://id.who.int/icd/entity/1132834719

 Accepted Synonyms

 ·         3q29 duplication syndrome

 ·         Trisomy 3q29

 ICD-10

 Q92.3 - Minor partial trisomy https://icd.who.int/browse10/2019/en#/Q92.3

 3q29 microduplication syndrome https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038

 Regards,

John O'Connor

Central Statistics Office, Ireland

 

Response from Lillian Bernardo, Portugal

 Hello,

 Then trisomy 29 is misspelt and you're assuming they meant trisomy 3q29, right?

Because trisomy 29 is not synonymous with trisomy 3q29.

 Regards,

Liliana Bernardo

Portugal