Table 1 Variables for RD suitability of primary care records analysis
From: Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study
Disease scoring | |
|---|---|
Core variables | Metric |
Is there an absence of significant mortality (> 30%) before five years of age? | Yes/no |
Does the disease have signs and symptoms that are progressive and potentially missed? | Yes/no |
Three or more clinical features likely to be encoded in the primary care EHR? | Yes/no |
Optional variable | Metric |
Does the disease have a high-specialised service pathway in the NHS? | Yes/no |
Is the disease multisystemic? (≥ than three organ systems involved) | Yes/no |
Point prevalence greater than 1:100,000? | Yes/no |