Article

Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network

2023-07-23

Abstract excerpt

<h4>ABSTRACT</h4> Turner syndrome (TS) is a genetic condition occurring in ∼1 in 2,000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single-center, underpowered studies. Secondary data analyses utilizing Electronic Health Record (EHR) have the potential to address these li...

Topics

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

Identifiers and source

Literature Corpus work: c53ddc61-504d-58ec-9496-d5f48216b9b8
DOI: 10.1101/2023.07.19.23292889

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric NetworkDOI 10.1101/2023.07.19.23292889Read

Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.Semantic proximity Read

Lymphedema in Turner syndrome: correlations with phenotype and karyotype.Semantic proximity Read

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.Semantic proximity Read

Turner SyndromeSemantic proximity Read

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatmentSemantic proximity Read

Developing and Validating a Computable Phenotype for the Identification of Transgender and Gender Nonconforming Individuals and SubgroupsSemantic proximity Read

Research Priorities of Individuals and Families with Sex Chromosome AneuploidiesSemantic proximity Read

The Use of Computational Phenotypes within Electronic Healthcare Data to Identify Transgender People in the United States: A Narrative ReviewSemantic proximity Read

Developing and Validating a Computable Phenotype for the Identification of Transgender and Gender Nonconforming Individuals and Subgroups.Semantic proximity Read

Population-based assessment of neurodevelopmental and mental health diagnoses among pediatric patients with Turner Syndrome: A PEDSnet studySemantic proximity Read

Turner syndrome in diverse populations.Semantic proximity Read

Neurodevelopmental and Psychiatric Disorders in Females With Turner Syndrome: A Population-based StudySemantic proximity Read