THE USE OF AN INFORMATION-RETRIEVAL DIAGN OSTIC SYSTEM FOR DIAGNOSIS OF HEREDITARY METABOLIC DISEASES WITH ACUTE PROGRESSION AND EARLY FATAL OUTCOME

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