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[自动化基因登记系统及用于医生诊断决策的计算机支持]

[Automated genetic register and computer support for the physician's diagnostic decisions].

作者信息

Kobrinskiĭ B A, Kazantseva L Z, Fel'dman A E, Babichev E M, Belitskaia T T, Belova N A, Kudriavtsev A M, Nikolaeva E A, Novikov P V, Semiachkina A N

出版信息

Genetika. 1993 Oct;29(10):1733-40.

PMID:8307362
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.

摘要

基于计算机的遗传登记系统“GENREG”能够对有遗传疾病、多因素病理以及各种性质先天性发育缺陷的儿童家庭进行预防性医学检查,同时也能进行流行病学检查。基于表型表现的遗传性疾病实验室前诊断自动化咨询系统“DIAGEN”能够识别多达1200个疾病单元;会考虑医生评估的体征诊断价值(或权重)。该系统筛选出一个狭窄的鉴别诊断序列以及每个选定诊断的特定实验室和功能变化信息。该系统的效率超过94%(根据后续实验室检查结果)。计算机诊断结果、最终医生诊断结果以及儿童问卷都存储在“DIAGEN”系统的档案(文件)中。这两个系统都在IBM兼容的PC/AT计算机上实现。

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