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. Author manuscript; available in PMC: 2016 Aug 1.
Published in final edited form as: J Biomed Inform. 2015 Jul 4;56:333–347. doi: 10.1016/j.jbi.2015.06.026

Figure 6. Combining basic subject phenotypes with logical operators.

Figure 6

This example shows the OWL class definition corresponding to DSM-IV’s diagnostic criterion A2(a): “delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)”. This is a union of five basic phenotypes related to the “most abnormal 4–5” (the most severe phenotype the subject exhibited at age 4–5) or the “current finding” (the phenotype that is currently exhibited). The phenotypes described here are related to the following ADI-R items: (1) overall level of language; (2) nodding; (3) head shaking; (4) conventional or instrumental gestures; (5) direct gaze.