Back to search

Article

Improving Early Diagnosis of Rare Diseases Using Natural Language Processing in Unstructured Medical Records: An Illustration From Dravet Syndrome 

2021-01-20

Abstract excerpt

<title>Abstract</title> <p><underline>Background</underline>The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to establish natural history. Dravet Syndrome (DS) is a rare Developmental and Epileptic Encephalopathy that commonly initiates in the first year of l...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
c658c5c4-e681-5f25-8085-43c640a6f1bf
DOI
10.21203/rs.3.rs-149382/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Improving Early Diagnosis of Rare Diseases Using Natural Language Processing in Unstructured Medical Records: An Illustration From Dravet Syndrome&nbsp;DOI 10.21203/rs.3.rs-149382/v1
Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.Semantic proximity
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.Semantic proximity
Diagnosis of Rare Diseases: A scoping review of clinical decision support systemsSemantic proximity
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.Semantic proximity
Dravet syndrome in children-A population-based study.Semantic proximity
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.Semantic proximity
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registrySemantic proximity
A disease concept model for <i>STXBP1</i>-related disordersSemantic proximity
The rendering of human phenotype and rare diseases in ICD-11.Semantic proximity
Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readinessSemantic proximity
Core Features Differentiate Dravet Syndrome from Febrile Seizures.Semantic proximity
Developing a Specialized Dravet Syndrome Ontology for Rare Disease Informatics and AI ApplicationsSemantic proximity
Select a neighboring publication to make it the new centre.