title: [Automated genetic register and computer support for the physician's diagnostic decisions].
abstract: Computer-based genetical register "GENREG" allows to carry out a prophylactic medical examination for families with children, having hereditary diseases, multifactorial pathology and congenital developmental defects of various nature, and also epidemiological examination. Automated consultative system for pre-laboratory diagnosis of genetically determined diseases after the phenotypical manifestations "DIAGEN" allows to identify up to 1200 nosologic units; diagnostic value (or weight) of the signs according to physician's evaluation is taken into consideration. The system sorts out a narrow differential-and-diagnostic row and information about specific laboratory and functional changes for every selected diagnosis. Efficiency of the system is over 94% (after the next laboratory findings). The results of computer diagnosis and final physician's diagnosis, and also questionnaire of a child are stored in archives (files) of the "DIAGEN" system. Both of the systems are realized on PC/AT IBM-compatible computer.
authors.forename: B A
authors.initials: BA
authors.lastname: Kobrinskiĭ
authors.forename: L Z
authors.initials: LZ
authors.lastname: Kazantseva
authors.forename: A E
authors.initials: AE
authors.lastname: Fel'dman
authors.forename: E M
authors.initials: EM
authors.lastname: Babichev
authors.forename: T T
authors.initials: TT
authors.lastname: Belitskaia
authors.forename: N A
authors.initials: NA
authors.lastname: Belova
authors.forename: A M
authors.initials: AM
authors.lastname: Kudriavtsev
authors.forename: E A
authors.initials: EA
authors.lastname: Nikolaeva
authors.forename: P V
authors.initials: PV
authors.lastname: Novikov
authors.forename: A N
authors.initials: AN
authors.lastname: Semiachkina
mesh_terms: D002648:Child; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000209:etiology; D016208:Databases, Factual; D003936:Diagnosis, Computer-Assisted; D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology; D005826:Genetics, Medical; D006801:Humans; D010641:Phenotype; D012042:Registries
vernacular_title: Avtomatizirovannyĭ geneticheskiĭ registr i komp'iuternaia podderzhka diagnosticheskikh resheniĭ vracha.