The birth defects information system. A computer-based information resource for diagnostic support, education, and...

Area of Science:

• Human Genetics
• Medical Informatics

Background:

• The Center for Birth Defects Information Services facilitates communication in birth defects and human genetics.
• It offers various print and electronic services for clinical practice, education, and research.

Purpose of the Study:

• Introduce Micro BDIS, a personal computer-based Birth Defects Information System.
• To provide a tool for differential diagnosis and managing unusual cases.

Main Methods:

• Utilizes a standardized language and free text for describing clinical cases or search criteria.
• Incorporates an evaluation facility to assist in differential diagnosis.
• Features an Unknowns Registry for cases that do not fit established diagnoses.

Main Results:

• Micro BDIS enables subscribers to input case details for diagnostic support.
• The system facilitates the development of differential diagnoses.
• Unusual cases can be submitted to a specialized registry.

Conclusions:

• Micro BDIS is a valuable self-contained system for personal computers.
• It enhances the diagnostic capabilities for birth defects and human genetics.
• The system supports clinical practice, education, and research by providing accessible information and diagnostic tools.