Main parts
Taxonomy
Explore the taxonomy of signs:
Open a clinical sign branch by clicking on the plus sign
Close a branch by clicking on the minus sign.
Focus
Focus on a clinical sign (in blue) by clicking on it.
When you focus on a clinical sign such as Albinism:
  • the system shows only those diseases with Albinism, ordered by decreasing frequency of signs in the focus
  • removes from the hierarchy of clinical signs all the signs not related with it; a shade of red indicates the average frequency of signs in the diseases selected
  • shows Albinism in the top right focus pane with a cross sign in front of it; clicking on the cross removes the sign from the current focus.
You can repeat focusing by clicking on any sign in the sign hierarchy.
If the sign is not in blue, it cannot be clicked because it would not restrict the current set of diseases. However, signs under it could be used
Result
Diseases in the result are displayed by decreasing frequency of signs in the focus.
In addition, the frequency of each sign in the focus is shown on a scale 1 to 3:
  • 1 red slot: occasional
  • 2 red slots: frequent
  • 3 red slots: very frequent
Click on the number in blue to display Orphanet's description for the corresponding disease.
QuickSymptom
You can access symptoms directly instead of going through the taxonomy. Just click QuickSymptom. A new window will open with a field to input the symptom. You do not have to input the entire symptom, a part of it will do. Hit the Enter key.
You will find a list of matching symptoms below, together with the number of diseases for that symptom in the current focus. Click on a symptom to automatically zoom on it.
Caution: Initially all symptoms can be retrieved in this way. Subsequent to setting a focus, only the symptoms related to the current focus can be retrieved.