Turner Syndome
| dc.contributor.author | Huang, Sarah |
| dc.contributor.author | Bamba, Vaneeta |
| dc.contributor.author | Bothwell, Samantha |
| dc.contributor.author | Fechner, Patricia |
| dc.contributor.author | Furniss, Anna |
| dc.contributor.author | Ikomi, Chijioke |
| dc.contributor.author | Nahata, Leena |
| dc.contributor.author | Nokoff, Natalie |
| dc.contributor.author | Pyle, Laura |
| dc.contributor.author | Seyoum, Helina |
| dc.contributor.author | Davis, Shanlee |
| dc.contributor.other | University of Colorado Anschutz Medical Campus |
| dc.contributor.other | Children's Hospital Colorado |
| dc.contributor.other | University of California, Los Angeles |
| dc.contributor.other | Children's Hospital of Philadelphia |
| dc.contributor.other | University of Washington |
| dc.contributor.other | Nemours Children's Health System |
| dc.contributor.other | Nationwide Children's Hospital |
| dc.contributor.other | Colorado School of Public Health |
| dc.date.accessioned | 2025-04-10T14:48:51Z |
| dc.date.created | 2023-12-08 |
| dc.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](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. |
| dc.description.abstract | Concept set to identify patients with Turner Syndrome. |
| dc.identifier.uri | https://pedsnet.org/metadata/handle/20.500.14642/998 |
| dc.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" |
| dc.publisher | PEDSnet |
| dc.rights | a CC-BY Attribution 4.0 License. |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ |
| dc.subject | Concept Set Development::Content Data Model::PEDSnet Data Model |
| dc.subject.mesh | Tuner Syndrome |
| dc.subject.mesh | Gonadal Dysgenesis |
| dc.subject.mesh | Urogenital Abnormalities |
| dc.subject.mesh | Urogenital Diseases |
| dc.subject.mesh | Disorders of Sex Development |
| dc.subject.mesh | Chromosome Disorders |
| dc.subject.other | PEDSnet Value Set |
| dc.subject.other | SNOMED |
| dc.title | Turner Syndome |
| dspace.entity.type | ConceptSet |
| local.quality.status | Research-Ready |
| local.subject.flat | PEDSnet Data Model |
| local.subject.flat | No Formal Review |
| relation.isOrgUnitOfConceptSet | 50ee736e-2446-4251-bb74-8cb2b0e6f54d |
| relation.isOrgUnitOfConceptSet.latestForDiscovery | 50ee736e-2446-4251-bb74-8cb2b0e6f54d |
| relation.isStudyOfConceptSet | c9a5c2f3-d7b2-4760-a7d0-e9910c005348 |
| relation.isStudyOfConceptSet.latestForDiscovery | c9a5c2f3-d7b2-4760-a7d0-e9910c005348 |
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