Computable Phenotype for Identifying Undiagnosed Hypermobile Ehlers-Danlos Syndrome: Protocol for a Development and Validation Study.

Abstract excerpt

Background: Hypermobile Ehlers-Danlos syndrome (hEDS) is a multisystemic hereditary connective tissue disorder characterized by generalized joint hypermobility, chronic pain, and a complex spectrum of comorbidities. Diagnosis relies on complex clinical criteria, leading to poor recognition by clinicians and fragmented care. Consequently, patients navigate the health care system for an average of 22.1 years before...

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• Algorithms
• Ehlers-Danlos Syndrome
• Electronic Health Records
• Phenotype
• Validation Studies as Topic