Kd. Krasnopolskaya et al., THE USE OF AN INFORMATION-RETRIEVAL DIAGN OSTIC SYSTEM FOR DIAGNOSIS OF HEREDITARY METABOLIC DISEASES WITH ACUTE PROGRESSION AND EARLY FATAL OUTCOME, Genetika, 30(11), 1994, pp. 1563-1565
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.