Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.

Tinker, Rory J; Peterson, Josh; Bastarache, Lisa

Tinker, Rory J; Peterson, Josh; Bastarache, Lisa.

Afiliação

Tinker RJ; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.
Peterson J; Vanderbilt University Medical Center, Department of Medicine, Nashville, TN; Vanderbilt University Medical Center, Department of Biomedical Informatics, Nashville, TN.
Bastarache L; Vanderbilt University Medical Center, Department of Biomedical Informatics, Nashville, TN. Electronic address: Lisa.bastarache@vumc.org.

Genet Med ; 25(10): 100921, 2023 10.

Article em En | MEDLINE | ID: mdl-37337966

Assuntos

Algoritmos; Registros Eletrônicos de Saúde; Humanos; Fenótipo

Palavras-chave

Diagnostic Convergence; Diagnostic delay; EHR; Mendelian genetic disorders; Rare disease

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Registros Eletrônicos de Saúde Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google