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Creation - Yao syndrome #198

Open Orphanet-ES opened 5 months ago

Orphanet-ES commented 5 months ago

Dear all,

A Spanish coder suggests the inclusion of Yao syndrome on Orphanet.

"Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants."

Since, like Blau syndrome, it is associated with the NOD2 gene, it may be a variant of this syndrome.

Although I have not been able to find this syndrome in the ICD-10 and ICD-11, in the Spanish version of the ICD-10 it can be located by searching free text and indicates the code M04.8 other autoinflammatory syndromes. Yao syndrom

In the following links you can find information related to this syndrome: https://www.ncbi.nlm.nih.gov/medgen/934587 OMIM # 617321 SNOMED-CT 768667002

Kind regards,

María Elena

MCecile-US14 commented 4 months ago

Dear @Orphanet-ES,

Thank you for your request, please note that this potential creation is not prioritized and will be treated within 6 months (after the release of Nomenclature Pack 2024)

Kind regards, Marie-Cécile

Orphanet-ES commented 4 months ago

Dear @MCecile-US14

Thanks for your answer. I will wait until after the release of the nomenclature pack you can review this information and your final decision.

Kind regards,

María Elena