Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles …

R Raycheva, K Kostadinov, E Mitova… - Frontiers in Public …, 2023 - frontiersin.org
Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …

[HTML][HTML] Systematized nomenclature of medicine–clinical terminology (SNOMED CT) clinical use cases in the context of electronic health record systems: systematic …

R Vuokko, A Vakkuri, S Palojoki - JMIR medical informatics, 2023 - medinform.jmir.org
Background The Systematized Medical Nomenclature for Medicine–Clinical Terminology
(SNOMED CT) is a clinical terminology system that provides a standardized and …

[HTML][HTML] The utilisation of primary health care system concepts positively impacts the assistance of patients with rare diseases despite limited knowledge and …

RL Ferreira, IJB do Nascimento… - Journal of Global …, 2023 - ncbi.nlm.nih.gov
Background Individuals with rare diseases (RD) have been historically understudied.
Previous publications reported that existing primary health care (PHC) workforces and …

[HTML][HTML] Embedding genomics across the NHS: a primary care perspective

J Hayward, W Evans, E Miller, I Rafi - Future Healthcare Journal, 2023 - Elsevier
Primary care remains the point of access to the NHS as well as having key roles in care
coordination and prescribing. Therefore, embedding of genomic medicine in the NHS relies …

[HTML][HTML] Mapping Digital Public Health Interventions Among Existing Digital Technologies and Internet-Based Interventions to Maintain and Improve Population Health …

L Maaß, K Angoumis, M Freye, CC Pan - Journal of Medical Internet …, 2024 - jmir.org
Background The rapid progression and integration of digital technologies into public health
have reshaped the global landscape of health care delivery and disease prevention. In …

[HTML][HTML] Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

SR Pereira, R Rodrigues, B Nunes, BD Silva… - Cureus, 2023 - ncbi.nlm.nih.gov
Parry Romberg syndrome (PRS) is an acquired neurocutaneous syndrome with uncertain
pathophysiology, and its incidence is unknown. Usually, the disease becomes apparent …

[PDF][PDF] Σχεδιασμός και Υλοποίηση Διεπαφής για Υποστήριξη Φορέων Υγείας: Δυνατότητες και Προκλήσεις αντίστοιχων Διαδικτυακών Πλατφορμών

Μ Πάστρας - 2023 - dspace.lib.ntua.gr
Περίληψη Ο στόχος της παρούσας διπλωματικής εργασίας είναι η δημιουργία ενός
πρωτολείου πλαισίου διαδικτυακής πλατφόρμας στον τομέα της υγείας, με σκοπό τη …

[PDF][PDF] Mapping Digital Public Health Interventions in Practice: A Scoping Review of Existing Digital Technologies and Internet-based Interventions to Maintain and …

L Maaß, K Angoumis, M Freye, CC Pan - researchgate.net
Background: The rapid progression and integration of digital technologies into public health
have reshaped the global landscape of health care delivery and disease prevention. In …