[Information and retrieval diagnostic system for inherited metabolic diseases]

The paper analyzes a procedure for construction and practical use of an information and retrieval diagnostic system (IRDS) for inherited metabolic diseases (IMD) in the context of an automatic working place for consulting genetics. An IRDS structure for IMD is proposed, which involves the following functional elements: 1) a genetic register; 2) an inherited metabolic disease database (IMDD); 3) a special module for searching for the probable range of diagnoses; 4) an archive; 5) a special model for statistical analysis of the clinical polymorphism of IMD. The full insight into each nosological entity (n = 316) as part of IMD IRDS is gained by using a set of catalogues, such as a catalogue IMD classes (n = 22), that of IMD clinical symptoms and signs (n = 1215); that of IMD biochemical markers (n = 934); a list of all symptoms and signs for each nosological entity; that of major diagnostic signs for each nosological entity. The clinical picture is described within the framework of the unified structure that includes the following set of items: the textual description of the clinical picture of a disease in terms of major diagnostic signs, etiology, genetics, pathogenesis, a biochemical phenotype, paraclinical studies, differential diagnosis, treatment, and prevention. The system is provided with a simple and user-friendly interface that allows a user to have a prompt look at the data pertaining to each nosological entity, to find required references by employing multiple keys of data search, sort, and printing.