Table 1.
Numbers of individuals with confirmed presumptive diagnosis, confirmed diagnosis other than presumptive diagnosis, presumptive diagnosis confirmed as false positive, and numbers of individuals in which a diagnosis remained unsolved
| Presumptive diagnosis (PDx) | Confirmed diagnosis = PDx | Confirmed diagnosis ≠ PDx* | False positive | Diagnosis remained unsolved | Row total |
|---|---|---|---|---|---|
| Rare anaemia | |||||
| n | 12 | 0 | 2 | 2 | 16 |
| Row % | 75.0 | 0.0 | 12.5 | 12.5 | 100 |
| Endocrinopathy | |||||
| n | 121 | 2 | 16 | 6 | 145 |
| Row % | 83.4 | 1.4 | 11.0 | 4.1 | 100 |
| Autoinflammatory disorder | |||||
| n | 110 | 2 | 49 | 48 | 209 |
| Row % | 52.6 | 1.0 | 23.4 | 23.0 | 100 |
| Primary immune deficiency | |||||
| n | 73 | 3 | 30 | 56 | 162 |
| Row % | 45.1 | 1.9 | 18.5 | 34.6 | 100 |
| Inborn error of metabolism | |||||
| n | 46 | 0 | 7 | 2 | 55 |
| Row % | 83.6 | 0.0 | 12.7 | 3.6 | 100 |
| Column Total | 362 | 7 | 104 | 114 | 587 |
| Row % | 61.7 | 1.2 | 17.7 | 19.4 | 100 |
*Confirmed diagnoses other than PDx: primary ovarian failure (ORPHA 95710), Behcet disease (ORPHA 117), other autoinflammatory disorder (ORPHA 319719), familial mediterranean fever (ORPHA 342), MIRAGE-syndrome (ORPHA 494433), chronic fatigue syndrome, Sneddon-syndrome (ORPHA 820)