Schorderet D, Aebischer P
Arch Dis Child. 1985 Mar;60(3):248-51. doi: 10.1136/adc.60.3.248.
The differential diagnosis of human malformation patterns is difficult because of their great number and low occurrence. To compensate for deficiencies in experience, the authors have developed a microcomputer based differential diagnosis for dysmorphic syndromes. Written in PL/I-80 and using a MDBS III data base containing more than 700 signs and 300 syndromes, the algorithm of SYNDROC, the program's name, is built on three different approaches. An initial differential diagnosis is given by a pseudo-Bayesian method. Its refinement is possible through an heuristic approach, and undiagnosed cases are stored for subsequent Boolean retrieval, thus permitting the recognition of new dysmorphic disorders. The reliability of the program was tested in a retrospective study based on 100 dysmorphic cases. The results showed a 95% agreement between the first two diagnoses suggested by SYNDROC and the diagnosis made by experienced geneticists.
人类畸形模式的鉴别诊断很困难,因为其数量众多且发生率低。为弥补经验不足,作者开发了一种基于微机的发育异常综合征鉴别诊断方法。该程序名为SYNDROC,用PL/I - 80编写,使用包含700多个体征和300多种综合征的MDBS III数据库,其算法基于三种不同方法构建。初步鉴别诊断由伪贝叶斯方法给出。可通过启发式方法对其进行完善,未诊断出的病例会被存储起来以供后续布尔检索,从而有助于识别新的发育异常疾病。在一项基于100例发育异常病例的回顾性研究中对该程序的可靠性进行了测试。结果显示,SYNDROC给出的前两个诊断结果与经验丰富的遗传学家做出的诊断之间的一致性为95%。