[Genetic syndromology. Introduction to a series].
Syndromology belongs to diagnostic methods based on the analysis of phenotypic (clinical or anatomical--dysmorphics) features, which occur very often together and have a common etiology (e.g. teratogenic embryopathy, numerical and structural chromosomal aberrations or gene mutations). In the phenotype analysis important appear so-called signal features, which enable to narrow the range of possible disorders for the differential diagnosis of the assumptive diseases.
Seemanová
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Oddĕlení klinické genetiky Ustavu biologie a lékarské genetiky 2. LF UK, Praha. eva.seemanova@lfmotol.cuni.cz
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D013577:Syndrome