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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)

Fig. 1

Schematic diagram of the survey instrument for Survey-1. The physicians can consider referring each difficult case when the following criteria are met: 1. The patient remains undiagnosed for six months or longer (not necessary for infants) and the symptom(s) affects his/her daily life; AND, 2–1. There exists an objective sign(s) that cannot be reduced to a single organ; OR 2–2. There exists direct or indirect evidence of a genetic etiology as likely (e.g., similar symptom(s) found in the patient’s relatives)

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