Experts of the Research Centre for Medical Genetics revised and approved the medical genetics terms included in ICD-11 terminology

Geneticists of the Research Centre for Medical Genetics revised and approved the translation of terms related to genetically determined diseases of the International Classification of Diseases, 11th revision.

The International Classification of Diseases (ICD) is a normative document, which ensures the unity of methodological approaches and comparability of materials at the international level in terms of morbidity, mortality and medical and social assistance. The ICD is reviewed every 10 years and approved by the World Health Assembly. The ICD of the 10th revision was adopted as a single regulatory document for accounting for morbidity, reasons for contacting medical institutions, and causes of death. ICD-10 was introduced into healthcare practice throughout Russia in 1999. The work on the Russian version of the ICD-11 is supervised by the Russian Ministry of Healthcare and the Interdepartmental Working Group.

The work was divided into 4 conditional stages. At the first stage, specialists from the St. Petersburg State Pediatric Medical University, on behalf of the Ministry of Healthcare of Russia, performed technical translation of "Developmental anomalies" chapter 20, one of the 26 chapters of ICD-11. The specialists of the Research Centre for Medical Genetics have the highest level of expertise in medical genetics in Russia, so they were commissioned to evaluate the translation. First of all, it was necessary to approve the terms that are relevant for practical use. The work of specialists of the Research Centre for Medical Genetics was highly appreciated by the Ministry of Healthcare and the Interdepartmental Working Group. They were invited to continue their participation in the adaptation of ICD-11 at the second stage: to conduct a peer review of the terms of medical genetics for all 26 chapters of the International Classification of Diseases. Each chapter contains a number of terms related to rare diseases.

At the third stage, the experts from the Research Centre for Medical Genetics were instructed to make adjustments to the English version of the ICD-11, a document compiled by the World Health Organization (WHO). Geneticists of the Research Centre for Medical Genetics offered their own versions of medical genetics terms in English.

At the fourth stage, the specialists of the Research Centre for Medical Genetics translated into Russian and made their own amendments to the “Extension codes” chapter. This is a separate chapter of the ICD-11, which contains 25,000 terms that did not fall into the other 26 chapters.

Today, work on the International Classification of Diseases continues. ICD-11 will be mandatory for use in Russia from January 1, 2025.

The moderators of the project were Danisa Tashtanbaeva, Leading Specialist of the Organizational and Methodological Department of the Research Centre for Medical Genetics, and Vladimir Sapozhnikov, Deputy Head of the Organizational and Methodological Department for International Cooperation of the Research Centre for Medical Genetics.

The following people worked on the translation and validation of the ICD-11 terms in the field of medical genetics:

STAGE 1

Alimov Andrey Anatolyevich – Leading Researcher, Laboratory of Molecular Genetics of Complexly Inherited Diseases of the, PhD

Zakharova Ekaterina Yuryevna - Head of the Laboratory of Hereditary Metabolic Diseases of the Research Centre for Medical Genetics, MD

Kadyshev Vitaliy Viktorovich - Head of the Department of Ophthalmogenetics of the Institute of Higher and Additional Professional Education of the Research Centre for Medical Genetics, Leading Researcher of the Laboratory of Genetic Epidemiology of the Research Centre for Medical Genetics, Ph.D.

Karandasheva Kristina Olegovna – Researcher of the Laboratory of Epigenetics of the Research Centre for Medical Genetics

STAGE 2

Alimov Andrey Anatolyevich – Leading Researcher, Laboratory of Molecular Genetics of Complexly Inherited Diseases of the Research Centre for Medical Genetics, PhD

Vasilyev Petr Andreevich - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Zakharova Ekaterina Yuryevna - Head of the Laboratory of Hereditary Metabolic Diseases of the Research Centre for Medical Genetics, MD

Karandasheva Kristina Olegovna – Researcher of the Laboratory of Epigenetics of the Research Centre for Medical Genetics

Minzhenkova Marina Evgenievna – Senior Researcher of the Laboratory of Cytogenetics of the Research Centre for Medical Genetics, MD

Mishina (Akimova) Irina Alekseevna - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Murtazina Aisylu Fanzirovna - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Semyonova Natalia Aleksandrovna – Senior Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics, MD

Tyulpakov Anatoly Nikolaevich - Head of the Department of Genetics of Endocrine Diseases of the Institute of Higher and Additional Professional Education of the Research Centre for Medical Genetics, MD.

Shilova Nadezhda Vladimirovna - Head of the Laboratory of Cytogenetics of the Research Centre for Medical Genetics, MD

STAGE 3

Alimov Andrey Anatolyevich – Leading Researcher, Laboratory of Molecular Genetics of Complexly Inherited Diseases of the Research Centre for Medical Genetics, PhD

Borovikov Artem Olegovich - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Mansorunov Danzan Zhargalovich – Junior Researcher of the Laboratory of Molecular Genetics of Complexly Inherited Diseases of the Research Centre for Medical Genetics

Mishina (Akimova) Irina Alekseevna - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Murtazina Aisylu Fanzirovna - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Semyonova Natalia Aleksandrovna – Senior Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics, MD

STAGE 4

Alimov Andrey Anatolyevich – Leading Researcher, Laboratory of Molecular Genetics of Complexly Inherited Diseases of the Research Centre for Medical Genetics, PhD

Borovikov Artem Olegovich - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Bostanova Fatima Muniaminovna - geneticist of the Advisory Department of the Research Centre for Medical Genetics

Vasilyev Petr Andreevich - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Vyakhireva Yulia Vladimirovna – Junior Researcher of the Laboratory of Functional Genomics of the Research Centre for Medical Genetics

Galushkin Artur Sergeevich – Junior Researcher of the Laboratory of Hereditary Metabolic Diseases of the Research Centre for Medical Genetics

Mikhalchuk (Grishina) Kristina Alexandrovna – Researcher of the Laboratory of DNA Diagnostics of the Research Centre for Medical Genetics

Mansorunov Danzan Zhargalovich – Junior Researcher of the Laboratory of Molecular Genetics of Complexly Inherited Diseases of the Research Centre for Medical Genetics

Mishina (Akimova) Irina Alekseevna - Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics

Semyonova Natalia Aleksandrovna – Senior Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics, MD

Solovova Olga Alexandrovna – post-graduate student of the Research Centre for Medical Genetics

Sharova Margarita Viktorovna – Junior Researcher of the Scientific Advisory Department of the Research Centre for Medical Genetics