Learning to use

Getting started

A more complete list of features is found in the Features pdf.

SimulConsult’s Phenome Analyzer is a Diagnostic Decision Support System (DDSS).  The company’s mission is to make diagnosis more efficient, while preserving quality, ensuring that each clinician is their best diagnostician.


SimulConsult has curated medicine into a computational database.  The software includes a database of 9,208 diseases and >200,000 relationships of findings to diseases, updated many times per month. The database covers all Mendelian disorders with known gene pathogenicity and all well-accepted chromosomal syndromes, as well as the non-genetic conditions (aka phenocopies) in the differential diagnosis of genetic conditions,  pediatric neurology, pediatric rheumatology, and increasingly all of pediatrics.

The fundamental tasks performed by the DDSS are as follows:

  • Computes differential diagnosis – the ranked list of candidate diseases a patient might have based on the findings (symptoms, signs and test results) you enter.
  • Suggests useful findings based on the evolving differential diagnosis.
  • Provides contextual links to other resources, including articles, images, etc.
  • Reveals the logic so you can assess if you believe it. Compares the entered findings to those in the selected disease. 

Getting started

  • Enter the age and chromosomal sex of the patient on the Initial screen.  
  • Add your first finding (symptoms, signs or test results) in Search (🔍).
    • Identify the most unusual finding in your patient. You can start anywhere but this makes it faster.
    • Locate finding: Type one or more findings into the green search box or review findings in one of the core lists found under Core on the black navigation bar.
      • Hover over finding to get synonyms.
      • Search for a single word such as “delay” and pick the closest fit.
      • Use the Rheumatology core list (either clinical findings or tests) to use common findings.
    • Add to Patient’s Phenotype: in the Presence menu (button with a “?”) next to the finding you want to add, click onset or absence. 
      • Patient Phenotype. Findings you have added are collected in the Phenotype tab under Dx on the black nav bar.
      • You can delete a previously added finding. Go to Dx/Phenotype and the Presence menu and click “Unspecified”. (Note: the text on all previously visited findings and diseases will be purple.)
  • View evolving differential diagnosis. Go to Dx/Differential screen to see the differential diagnosis based on the findings you have entered
  • Iteratively add to Phenotype: Using search, core lists or the Dx/Add Findings or Add Tests, add useful findings. The green shading on the finding indicates the relative usefulness in narrowing the differential diagnosis.

Use of color. Diseases are blue and findings are green in the software.