Turner Syndrome
| dc.contributor.author | Reedy, Cara |
| dc.contributor.other | Nemours Children's Health System |
| dc.date.accessioned | 2025-06-18T13:51:49Z |
| dc.date.created | 2024-07-10 |
| dc.description | The project used an [existing computational phenotype for TS](https://doi.org/10.1002/ajmg.a.63495) and narrowed the cohort to those diagnosed after 2011 (due to data quality issues in the 2010 data) and at <=21 years old. |
| dc.description.abstract | This phenotype was used to define a cohort of patients with Turner Syndrome (TS) for the "Investigating timing of diagnosis and equitable care in children with Turner syndrome" study run by Chijioke Ikomi. The cohort was used for analysis of diagnosis date by demographics, rurality, and pre/post changes in guidelines in 2017. |
| dc.identifier.uri | https://hdl.handle.net/20.500.14642/1124 |
| dc.provenance | This was created for the study "Investigating timing of diagnosis and equitable care in children with Turner syndrome". The cohort described by the phenotype was the central cohort used to investigate timing of diagnosis. |
| dc.relation | Investigating Timing of Diagnosis and Equitable Care in Children with Turner Syndrome |
| dc.rights | Noninvasive Prenatal Testing |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ |
| dc.subject | PEDSnet Data Model |
| dc.subject | Primary Outcome/Exposure |
| dc.subject | Cohort Definition |
| dc.subject.mesh | Turner Syndrome |
| dc.subject.mesh | Disorders of Sex Development |
| dc.subject.mesh | Congenital Abnormalities |
| dc.subject.other | OMOP Value Set |
| dc.title | Turner Syndrome |
| dspace.entity.type | Phenotype |
| local.admin.note | 53 |
| local.quality.status | Needs Refinement |
| local.subject.flat | Child Patient Population |
| local.subject.flat | Adolescent Patient Population |
| local.subject.flat | Female Patient Population (Assigned at Birth) |
| local.subject.flat | Intersex Patient Population (Assigned at Birth) |
| local.subject.flat | Any Race/Ethnicity Patient Population |
| local.subject.flat | PEDSnet Data Model |
| local.subject.flat | Primary Outcome/Exposure |
| local.subject.flat | Cohort Definition |
| relation.isDocumentationOfPhenotype | 7156b9cb-99cf-430f-acc6-040fe7398373 |
| relation.isDocumentationOfPhenotype.latestForDiscovery | 7156b9cb-99cf-430f-acc6-040fe7398373 |
| relation.isStudyOfPhenotype | c9a5c2f3-d7b2-4760-a7d0-e9910c005348 |
| relation.isStudyOfPhenotype.latestForDiscovery | c9a5c2f3-d7b2-4760-a7d0-e9910c005348 |
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