[Use of an information-search diagnostic system for recognizing acute hereditary metabolic diseases with early lethal...

An information retrieval diagnostic system for hereditary metabolic diseases that are characterized by acute progression and early fatal outcome was developed. The system includes four databases: a list of nosological forms (n = 152), a list of clinical symptoms and characteristics (n = 1094), clinical portraits of every disease, and a list of biochemical characteristics (n = 1072). The system describes each disease as follows: clinical phenotype, etiology, genetics, pathogenesis, biochemical phenotype, paraclinical investigations, differential diagnosis, treatment, and prevention.