title: [Use of an information-search diagnostic system for recognizing acute hereditary metabolic diseases with early lethal outcomes].
abstract: 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.
authors.forename: K D
authors.initials: KD
authors.lastname: Krasnopol'skaia
authors.forename: K K
authors.initials: KK
authors.lastname: Sakhibzadaeva
authors.forename: I A
authors.initials: IA
authors.lastname: Goncharova
authors.forename: A N
authors.initials: AN
authors.lastname: Chebotarev
mesh_terms: D000208:Acute Disease; D003936:Diagnosis, Computer-Assisted; D003937:Diagnosis, Differential; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000503:physiopathology; D010641:Phenotype
vernacular_title: Ispol'zovanie informatsionno-poiskovoĭ diagnosticheskoĭ sistemy dlia raspoznavaniia ostrotekushchikh nasledstvennykh bolezneĭ obmena s rannim letal'nym iskhodom.