1.Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary
Seunghyun LEE ; Namki HONG ; Gyu Seop KIM ; Jing LI ; Xiaoyu LIN ; Sarah SEAGER ; Sungjae SHIN ; Kyoung Jin KIM ; Jae Hyun BAE ; Seng Chan YOU ; Yumie RHEE ; Sin Gon KIM
Yonsei Medical Journal 2025;66(3):187-194
Purpose:
Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.
Materials and Methods:
Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.
Results:
The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK).
Conclusion
Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.
2.Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary
Seunghyun LEE ; Namki HONG ; Gyu Seop KIM ; Jing LI ; Xiaoyu LIN ; Sarah SEAGER ; Sungjae SHIN ; Kyoung Jin KIM ; Jae Hyun BAE ; Seng Chan YOU ; Yumie RHEE ; Sin Gon KIM
Yonsei Medical Journal 2025;66(3):187-194
Purpose:
Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.
Materials and Methods:
Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.
Results:
The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK).
Conclusion
Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.
3.Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary
Seunghyun LEE ; Namki HONG ; Gyu Seop KIM ; Jing LI ; Xiaoyu LIN ; Sarah SEAGER ; Sungjae SHIN ; Kyoung Jin KIM ; Jae Hyun BAE ; Seng Chan YOU ; Yumie RHEE ; Sin Gon KIM
Yonsei Medical Journal 2025;66(3):187-194
Purpose:
Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.
Materials and Methods:
Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.
Results:
The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK).
Conclusion
Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.
4.Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary
Seunghyun LEE ; Namki HONG ; Gyu Seop KIM ; Jing LI ; Xiaoyu LIN ; Sarah SEAGER ; Sungjae SHIN ; Kyoung Jin KIM ; Jae Hyun BAE ; Seng Chan YOU ; Yumie RHEE ; Sin Gon KIM
Yonsei Medical Journal 2025;66(3):187-194
Purpose:
Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.
Materials and Methods:
Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.
Results:
The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK).
Conclusion
Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.
5.Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary
Seunghyun LEE ; Namki HONG ; Gyu Seop KIM ; Jing LI ; Xiaoyu LIN ; Sarah SEAGER ; Sungjae SHIN ; Kyoung Jin KIM ; Jae Hyun BAE ; Seng Chan YOU ; Yumie RHEE ; Sin Gon KIM
Yonsei Medical Journal 2025;66(3):187-194
Purpose:
Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.
Materials and Methods:
Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.
Results:
The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK).
Conclusion
Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.
6.Protecting our future: environmental hazards and children’s health in the face of environmental threats: a comprehensive overview
Jungha LEE ; Hyo-Bin KIM ; Hun-Jong JUNG ; Myunghee CHUNG ; So Eun PARK ; Kon-Hee LEE ; Won Seop KIM ; Jin-Hwa MOON ; Jung Won LEE ; Jae Won SHIM ; Sang Soo LEE ; Yunkoo KANG ; Young YOO ;
Clinical and Experimental Pediatrics 2024;67(11):589-598
Children face the excitement of a changing world but also encounter environmental threats to their health that were neither known nor suspected several decades ago. Children are at particular risk of exposure to pollutants that are widely dispersed in the air, water, and food. Children and adolescents are exposed to chemical, physical, and biological risks at home, in school, and elsewhere. Actions are needed to reduce these risks for children exposed to a series of environmental hazards. Exposure to a number of persistent environmental pollutants including air pollutants, endocrine disruptors, noise, electromagnetic waves (EMWs), tobacco and other noxious substances, heavy metals, and microplastics, is linked to damage to the nervous and immune systems and affects reproductive function and development. Exposure to environmental hazards is responsible for several acute and chronic diseases that have replaced infectious diseases as the principal cause of illnesses and death during childhood. Children are disproportionately exposed to environmental toxicities. Children drink more water, eat more food, and breathe more frequently than adults. As a result, children have a substantially heavier exposure to toxins present in water, food, or air than adults. In addition, their hand-to-mouth behaviors and the fact that they live and play close to the ground make them more vulnerable than adults. Children undergo rapid growth and development processes that are easily disrupted. These systems are very delicate and cannot adequately repair thetional development in children’s environmental health was the Declaration of the Environment Leaders of the Eight on Children’s Environmental Health by the Group of Eight. In 2002, the World Health Organization launched an initiative to improve children’s environmental protection effort. Here, we review major environmental pollutants and related hazards among children and adolescents.
7.Protecting our future: environmental hazards and children’s health in the face of environmental threats: a comprehensive overview
Jungha LEE ; Hyo-Bin KIM ; Hun-Jong JUNG ; Myunghee CHUNG ; So Eun PARK ; Kon-Hee LEE ; Won Seop KIM ; Jin-Hwa MOON ; Jung Won LEE ; Jae Won SHIM ; Sang Soo LEE ; Yunkoo KANG ; Young YOO ;
Clinical and Experimental Pediatrics 2024;67(11):589-598
Children face the excitement of a changing world but also encounter environmental threats to their health that were neither known nor suspected several decades ago. Children are at particular risk of exposure to pollutants that are widely dispersed in the air, water, and food. Children and adolescents are exposed to chemical, physical, and biological risks at home, in school, and elsewhere. Actions are needed to reduce these risks for children exposed to a series of environmental hazards. Exposure to a number of persistent environmental pollutants including air pollutants, endocrine disruptors, noise, electromagnetic waves (EMWs), tobacco and other noxious substances, heavy metals, and microplastics, is linked to damage to the nervous and immune systems and affects reproductive function and development. Exposure to environmental hazards is responsible for several acute and chronic diseases that have replaced infectious diseases as the principal cause of illnesses and death during childhood. Children are disproportionately exposed to environmental toxicities. Children drink more water, eat more food, and breathe more frequently than adults. As a result, children have a substantially heavier exposure to toxins present in water, food, or air than adults. In addition, their hand-to-mouth behaviors and the fact that they live and play close to the ground make them more vulnerable than adults. Children undergo rapid growth and development processes that are easily disrupted. These systems are very delicate and cannot adequately repair thetional development in children’s environmental health was the Declaration of the Environment Leaders of the Eight on Children’s Environmental Health by the Group of Eight. In 2002, the World Health Organization launched an initiative to improve children’s environmental protection effort. Here, we review major environmental pollutants and related hazards among children and adolescents.
8.Protecting our future: environmental hazards and children’s health in the face of environmental threats: a comprehensive overview
Jungha LEE ; Hyo-Bin KIM ; Hun-Jong JUNG ; Myunghee CHUNG ; So Eun PARK ; Kon-Hee LEE ; Won Seop KIM ; Jin-Hwa MOON ; Jung Won LEE ; Jae Won SHIM ; Sang Soo LEE ; Yunkoo KANG ; Young YOO ;
Clinical and Experimental Pediatrics 2024;67(11):589-598
Children face the excitement of a changing world but also encounter environmental threats to their health that were neither known nor suspected several decades ago. Children are at particular risk of exposure to pollutants that are widely dispersed in the air, water, and food. Children and adolescents are exposed to chemical, physical, and biological risks at home, in school, and elsewhere. Actions are needed to reduce these risks for children exposed to a series of environmental hazards. Exposure to a number of persistent environmental pollutants including air pollutants, endocrine disruptors, noise, electromagnetic waves (EMWs), tobacco and other noxious substances, heavy metals, and microplastics, is linked to damage to the nervous and immune systems and affects reproductive function and development. Exposure to environmental hazards is responsible for several acute and chronic diseases that have replaced infectious diseases as the principal cause of illnesses and death during childhood. Children are disproportionately exposed to environmental toxicities. Children drink more water, eat more food, and breathe more frequently than adults. As a result, children have a substantially heavier exposure to toxins present in water, food, or air than adults. In addition, their hand-to-mouth behaviors and the fact that they live and play close to the ground make them more vulnerable than adults. Children undergo rapid growth and development processes that are easily disrupted. These systems are very delicate and cannot adequately repair thetional development in children’s environmental health was the Declaration of the Environment Leaders of the Eight on Children’s Environmental Health by the Group of Eight. In 2002, the World Health Organization launched an initiative to improve children’s environmental protection effort. Here, we review major environmental pollutants and related hazards among children and adolescents.
9.Protecting our future: environmental hazards and children’s health in the face of environmental threats: a comprehensive overview
Jungha LEE ; Hyo-Bin KIM ; Hun-Jong JUNG ; Myunghee CHUNG ; So Eun PARK ; Kon-Hee LEE ; Won Seop KIM ; Jin-Hwa MOON ; Jung Won LEE ; Jae Won SHIM ; Sang Soo LEE ; Yunkoo KANG ; Young YOO ;
Clinical and Experimental Pediatrics 2024;67(11):589-598
Children face the excitement of a changing world but also encounter environmental threats to their health that were neither known nor suspected several decades ago. Children are at particular risk of exposure to pollutants that are widely dispersed in the air, water, and food. Children and adolescents are exposed to chemical, physical, and biological risks at home, in school, and elsewhere. Actions are needed to reduce these risks for children exposed to a series of environmental hazards. Exposure to a number of persistent environmental pollutants including air pollutants, endocrine disruptors, noise, electromagnetic waves (EMWs), tobacco and other noxious substances, heavy metals, and microplastics, is linked to damage to the nervous and immune systems and affects reproductive function and development. Exposure to environmental hazards is responsible for several acute and chronic diseases that have replaced infectious diseases as the principal cause of illnesses and death during childhood. Children are disproportionately exposed to environmental toxicities. Children drink more water, eat more food, and breathe more frequently than adults. As a result, children have a substantially heavier exposure to toxins present in water, food, or air than adults. In addition, their hand-to-mouth behaviors and the fact that they live and play close to the ground make them more vulnerable than adults. Children undergo rapid growth and development processes that are easily disrupted. These systems are very delicate and cannot adequately repair thetional development in children’s environmental health was the Declaration of the Environment Leaders of the Eight on Children’s Environmental Health by the Group of Eight. In 2002, the World Health Organization launched an initiative to improve children’s environmental protection effort. Here, we review major environmental pollutants and related hazards among children and adolescents.
10.Does Music Have a Calming Effect on Pain and Anxiety in Patients Undergoing Cystoscopy?
Ye Chan JOO ; Ji Eun YU ; Jae Hyun BAIK ; Young Seop CHANG ; Jin Bum KIM ; Hyung Joon KIM ; Dong Hoon KOH ; Hong Wook KIM
Urogenital Tract Infection 2024;19(1):3-9
Purpose:
Cystoscopy is a diagnostic test performed frequently in urology outpatient clinics. Despite the large number of inspections, the associated pain, discomfort, or anxiety can markedly affect patient compliance and adherence to subsequent surveillance protocols. This study conducted a prospective, randomized study to investigate the potential efficacy of music and pyuria on pain or anxiety during outpatient cystoscopy.
Materials and Methods:
In this single-institution, randomized study, the participants were assigned to a music-intervention or non-music control group. The music-intervention group underwent an identical procedure with the addition of Johann Sebastian Bach’s “Air on the G String” from Suite No. 3 in D major, BWV 1068. Urinalysis was performed to determine if pyuria affects pain during the procedure.
Results:
The patient-reported outcomes, encompassing the changes in the STAI-X-1 (State-Trait Anxiety Inventory-X-1) scores, subjective levels of discomfort, embarrassment, satisfaction, and pain, were similar in the two groups. In contrast, the surgeons reported statistically significant differences in their evaluations of the same items as patient-reported outcomes of the two groups. The patient-reported pain showed no significant differences between the pyuria-negative group (0-2 and 3-5 WBC/HPF) and pyuria-positive group (>5 WBC/HPF).
Conclusions
The data from this study do not support the hypothesis that musical intervention during cystoscopy alleviates pain or anxiety to any significant extent.In addition, pyuria did not affect the patient’s reported pain. Nevertheless, a notable impact was observed in the surgeons’ assessments, suggesting that the musical accompaniment may alter the surgeons’ perception of patient pain and anxiety levels throughout the procedure.

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