Abstract
The article discusses the representation of information on lysosomal storage diseases to support the process of diagnostic decisions in childhood. This hereditary pathology refers to rare (orphan) diseases that are difficult to recognize and without timely appropriate therapy has a negative effect on the quality and expectancy of life. The article analyzes information sources for 16 nosological units from this group. Using the methods of knowledge engineering, information about the identified clinical manifestations is represented in the form of visual portraits (mind map) for diagnostics diseases and improvement qualification of pediatricians.
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