Learning to use

Phenome Analyzer FAQs

What is the difference between “usefulness” and “pertinence”?

The two concepts are related.

  1. Usefulness is prospective, meaning what additional information would most change the differential diagnosis. 
  2. Pertinence is retrospective, meaning a measure of how much this finding has driven the differential diagnosis.

What file format can the software read to load the patient?

You can load the text string or the PDF Patient Summary, or even the HTML version of the Patient Summary that you may have saved from the old version of the software.

How do I update my name and title that appears in the Patient Summary?

From any page on the SimulConsult Web site other than the page running the software, hover over the My Account menu, then choose “Account details”.

Is there a “rule out” feature?

Yes.  Once you select a disease as active by clicking on it, two options will appear in the the Add findings tab and Add tests tab: “Usefulness in all diseases” and “Rule in or out selected disease”.

What is the difference between the Profile of the Finding and of a Disease?

  1. The Profile of a Finding shows the frequency and onset of that finding in each disease, displayed in declining frequency at the patient age. 
  2. The Profile of a Disease shows the Findings in the selected disease displayed in declining frequency at the patient age.

How do I find the app in the app store?

There is no need to install an app to run on mobile platforms. The diagnostic tool runs from the same URL as it does on personal computers.

What do the colors mean in the software?

Diseases are blue.
Findings are green (signs, symptoms, lab results).
The current age period is black. Later is purple. Earlier is brown. Gone is gray.

How is the dominant versus recessive character of an X-linked disease handled?

In simpler times, it was common to refer to an X-linked disease as dominant or recessive. Now, it is recognized that many X-linked diseases have a mixture of the two types of expression. A good example is X-linked adrenoleukodystrophy, where the leukodystrophy is dominant and the adrenal deficiency is recessive (losing half of myelin cells is enough to block axonal transmission but losing half of hormone-producing cells is less problematic).

The diagnostic software applies both recessive and dominant models to X-linked diseases, according to the recessive versus dominant character of the disease. For some diseases, there are separate listings for forms of the disease in males and females.

Can the software be used in prenatal settings?

SimulConsult has lots of material on prenatal findings, curated from many sources, including the Woodward “Diagnostic Imaging: Obstetrics” and Benacerraf “Ultrasound of Fetal Syndromes” textbooks.  There is a bundle “Prenatal ultrasound” that combines information in that test and puts it in order of usefulness (green shading), as shown in the image below for a 0 day old boy with nuchal thickness on prenatal ultrasound already entered as a required finding (using the box that appears to the left of the presence box). 

Prenatal diagnosis