Glossary

The language of patient finding.

Short, plain definitions of the terms we use across the site. If a word here is doing real work in rare disease diagnosis, this is what we mean by it.

Rare disease: A condition that affects relatively few people individually. Collectively rare diseases are common: there are more than 10,000 of them, and roughly 1 in 10 Americans lives with one (NORD). Fewer than 5% have an FDA-approved treatment.
Diagnostic odyssey: The long path many rare disease patients take before they get a correct diagnosis. It often runs for years and across several specialists, with incorrect diagnoses and repeated testing along the way. We wrote about the numbers behind it in The rare disease diagnostic odyssey.
Patient finding: Surfacing undiagnosed and underdiagnosed patients who match a disease profile from health data that already exists. The result is an explainable list of candidates for a specialist to review, not a diagnosis. Patient finding is what PathfindEHR™ does.
Undiagnosed vs underdiagnosed: An undiagnosed patient has no diagnosis yet for the condition they have. An underdiagnosed condition is one that is recognized less often than it actually occurs in a population. Patient finding addresses both.
Clinical decision support system (CDSS): Software that helps a clinician make a decision by surfacing relevant evidence. A CDSS supports judgment; it does not replace it. PathfindEHR™ is decision support, not a diagnostic device: it shows candidate patients and the evidence behind each, and the specialist decides.
Governed disease pathway: A disease definition, including the codes, signals, inclusions, and exclusions that identify it, curated and signed off by clinical experts before use. It is versioned and reproducible, so the same inputs always produce the same patients. More in Why disease definitions belong under governance.
Key opinion leader (KOL): A recognized clinical expert in a disease area. At Sagacity, KOLs curate and approve every disease pathway, so cohort definitions are clinically defensible rather than improvised at runtime.
Computational phenotyping: Using coded and clinical data to identify patients who fit a condition’s profile. It connects evidence that is already in the chart but that no single review has put together. See Finding the undiagnosed.
FHIR: Fast Healthcare Interoperability Resources, the HL7 standard for exchanging health data. PathfindEHR™ reads standard FHIR, so there is no bespoke data model to build first.
Real-world data (RWD): Health data generated during routine care, such as electronic health records, rather than data collected for a clinical trial. It is the raw material for finding patients at population scale.
In-warehouse analytics: Running the analysis where the data already lives. PHI stays inside your governed environment, with no migration and no copying it out. We explain the approach in FHIR and real-world data.
HIPAA-eligible: Built to support compliance with HIPAA, the US law governing how protected health information (PHI) is handled. PathfindEHR™ is designed to be auditable end to end.