Diagnosis

A diagnosis can be entered as a working clinical diagnosis in the “Clinical diagnosis” field linked to ORPHANET terms, and/or as a diagnosis confirmed by laboratory testing in the “Confirmed diagnosis” field linked to OMIM terms. Typing in these text fields will bring up selectable suggestions from the associated ontology.

Below the diagnosis fields, users can browse matching diagnoses suggestions by clicking “MATCHING DISORDERS IN OMIM”. This section records the results of live searches in OMIM for disorders with symptoms that match your patient’s phenotypic profile, as entered in the Prenatal and Perinatal History or Clinical Symptoms and Physical Findings sections, displaying the best matches. This takes into account how informative the symptoms are (a phenotype present in fewer disorders is considered more informative than a common one) and how frequently a disorder is known to occur in the population. The contribution of symptoms to the diagnosis suggestions can be disabled and reenabled by clicking individual symptoms in the yellow bar at the top of the list of the matching disorders list. Disabling and reenabling symptoms allows you to evaluate the effect they have on the matching results.


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