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THE UNDIAGNOSED DISEASE STATE

The term disease, etymologically meaning “lack of ease” or the presence of discomfort, is defined as an abnormal state that negatively affects the structure or function of all or part of an organism and that is not due to any immediate external injury. When referring to a person experiencing a disease, the word patient is used in its original, meaning “the one who endures suffering.” These terms are well suited when referring to patients with undiagnosed diseases. A patient with an undiagnosed disease is one for whom a medical diagnosis is not discerned after reasonable efforts utilizing established methods and procedures. Multiple factors may contribute to a failure to reach a diagnosis (Table 492-1). Patients who are affected by an undiagnosed disease for a protracted period of time can be said to be in an undiagnosed disease state.

TABLE 492-1Factors Contributing to the Presence of an Undiagnosed Disease

THE MEANING AND CONTEXT OF A DIAGNOSIS

A diagnosis often entails hierarchical levels of information specificity with varying levels of relevance to the users (consumers) of such information, i.e., patients and their families, health ...

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