Turner Syndome

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Abstract

Concept set to identify patients with Turner Syndrome.

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Provenance

This concept set was developed as inclusion criteria for "Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network"

Description

This concept set was developed by Huang et al for “Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network” (DOI: https://doi.org/10.1002/ajmg.a.63495). It organizes SNOMED and PEDSNet concept codes for diagnoses for Turner Syndrome, both complete monosomy and mosaic.

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Investigating Timing of Diagnosis and Equitable Care in Children with Turner Syndrome
Nemours Children's Health System
Study to determine if diagnosis rates of Turner syndrome have improved since 2017 with increased recommendation of noninvasive prenatal testing (NIPT) and to investigate the association between age at diagnosis of Turner syndrome and race, ethnicity, and socio-economic status.

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Except where otherwised noted, this item's license is described as a CC-BY Attribution 4.0 License.