AIMC Topic: Rare Diseases

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An Ontology-Based Approach to Estimate the Frequency of Rare Diseases in Narrative-Text Radiology Reports.

Studies in health technology and informatics Jan 1, 2017
This study sought to use ontology-based knowledge to identify patients with rare diseases and to estimate the frequency of those diseases in a large database of radiology reports. Natural language processing methods were applied to 12,377,743 narrari...
Humans Narration Natural Language Processing Radiology Information Storage and Retrieval Biological Ontologies Radiology Information Systems Rare Diseases
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Antiphospholipid Syndrome with Antiβ2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome.

Acta dermatovenerologica Croatica : ADC Dec 1, 2016
The antiphospholipid antibody syndrome is defined by the presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism (1). SAPHO syndrome is a rare disease, characterized by specific clinical manifestations of...
Humans Female Adult Risk Assessment Ultrasonography Injections, Subcutaneous Venous Thrombosis Follow-Up Studies Enoxaparin Recurrence Acquired Hyperostosis Syndrome Antibodies, Anticardiolipin Antiphospholipid Syndrome Rare Diseases
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