An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

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)

ISSN: 1750-1172