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This publication includes IP covered under the following statements.

Copyright HL7. Licensed under creative commons public domain
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It is a condition of HGNC funding from NIH and the Welcome Trust that the nomenclature and information provided is freely available to all. Anyone may use the HGNC data, but we request that they reference the "HUGO Gene Nomenclature Committee at the European Bioinformatics Institute" and the website where possible.
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- HUGO Gene Nomenclature Committee Genes : Bundle/HereditaryCancerTestingBundleCollectionNegative , Bundle/PrenatalCollectionBundlePartnered ... Show 34 more
Most of the information on the CDC and ATSDR websites is not subject to copyright, is in the public domain, and may be freely used or reproduced without obtaining copyright permission.For information and exceptions regarding use of CDC material please see https://www.cdc.gov/other/agencymaterials.html .
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- CDC Race and Ethnicity : Bundle/HereditaryCancerTestingBundleCollectionNegative , Bundle/PrenatalCollectionBundlePartnered ... Show 5 more
See https://clinicaltrials.gov/about-site/terms-conditions for the Terms and Conditions that apply for use of ClinicalTrials.gov data.
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- ClinicalTrials.gov : Bundle/ct-xT-bundle
The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved. https://ucum.org/trac/wiki/TermsOfUse
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- Unified Code for Units of Measure (UCUM) : Bundle/HereditaryCancerTestingBundleCollectionNegative , Bundle/PrenatalCollectionBundlePartnered , Bundle/ct-xT-bundle , Observation/PrenatalVariant1CNVFactorXiDeficiencyPatientMale and RiskAssessment/HereditaryCancerTestingGenRiskAssessNegative
This material contains content from LOINC . LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license . LOINC® is a registered United States trademark of Regenstrief Institute, Inc.
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- LOINC : Bundle/HereditaryCancerTestingBundleCollectionNegative , Bundle/PrenatalCollectionBundlePartnered ... Show 65 more
This material contains content that is copyright of SNOMED International. Implementers of these specifications must have the appropriate SNOMED CT Affiliate license - for more information contact https://www.snomed.org/get-snomed or info@snomed.org .
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- SNOMED Clinical Terms® (SNOMED CT®) : Bundle/HereditaryCancerTestingBundleCollectionNegative , Bundle/PrenatalCollectionBundlePartnered ... Show 32 more
This material derives from the HL7 Terminology (THO). THO is copyright ©1989+ Health Level Seven International and is made available under the CC0 designation. For more licensing information see: https://terminology.hl7.org/license.html
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hl7.fhir.us.hai: Healthcare Associated Infection Implementation Guide ®© HL7 | CC0 ( src )

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions ( src )

This material contains content from LOINC. LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc. Show Usage * LOINC: Bundle/HereditaryCancerTestingBundleCollectionNegative, Bundle/PrenatalCollectionBundlePartnered... Show 65 more , Bundle/PrenatalCollectionBundleSingle, Bundle/ct-xT-bundle, DiagnosticReport/HereditaryCancerTestingDiagnosticReportNegative, DiagnosticReport/PrenatalGenomicReportCouple, DiagnosticReport/PrenatalGenomicReportPatientFemale, DiagnosticReport/PrenatalGenomicReportPatientMale, GdxDiagnosticImplication, GdxGenomicReport, GdxTherapeuticImplication, GdxVariant, Observation/HereditaryCancerTestingOverInterNegative, Observation/HereditaryCancerTestingVarNegative, Observation/PrenatalDiagImpAlpha1ADPatientMale, Observation/PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale, Observation/PrenatalDiagImpFactorXiDeficiencyPatientFemale, Observation/PrenatalDiagImpFactorXiDeficiencyPatientMale, Observation/PrenatalDiagImpFamilialHyperinsulinismPatientMale, Observation/PrenatalDiagImpFragileXSyndromePatientFemale, Observation/PrenatalDiagImpGlycogenStorageDiseasePatientFemale, Observation/PrenatalDiagImpGlycogenStorageDiseasePatientMale, Observation/PrenatalDiagImpHereditaryHemochromatoPatientFemale, Observation/PrenatalDiagImpHereditaryHemochromatoPatientMale, Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale, Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientMale, Observation/PrenatalReprDiagImpAlpha1ADPatientMale, Observation/PrenatalReprDiagImpAutosomalRecessiveSAoCSPatientMale, Observation/PrenatalReprDiagImpFactorXiDeficiencyCouple, Observation/PrenatalReprDiagImpFamilialHyperinsulinismPatientMale, Observation/PrenatalReprDiagImpFragileXSyndromeCouple, Observation/PrenatalReprDiagImpHereditaryHemochromatoCouple, Observation/PrenatalVariant1CNVFactorXiDeficiencyPatientMale, Observation/PrenatalVariant1FragileXSyndromePatientFemale, Observation/PrenatalVariant1SNPAlpha1ADPatientMale, Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientFemale, Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientMale, Observation/PrenatalVariant2FragileXSyndromePatientFemale, Observation/PrenatalVariant2SNPHereditaryHemochromatoPatientFemale, Observation/PrenatalVariantAutosomalRecessiveSAoCSPatientMale, Observation/PrenatalVariantFactorXiDeficiencyPatientFemale, Observation/PrenatalVariantFamilialHyperinsulinismPatientMale, Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientFemale, Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientMale, Observation/PrenatalVariantPrimaryHyperoxaluriaPatientFemale, Observation/PrenatalVariantPrimaryHyperoxaluriaPatientMale, Procedure/HereditaryCancerTestingGenomicStudyAnalysis, Procedure/PrenatalGenomicStudyAnalysisAlpha1ADPatientMale, Procedure/PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale, Procedure/PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple, Procedure/PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientFemale, Procedure/PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientMale, Procedure/PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale, Procedure/PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale, Procedure/PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple, Procedure/PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientFemale, Procedure/PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale, Procedure/PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple, Procedure/PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale, Procedure/PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale, Procedure/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple, Procedure/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientFemale, Procedure/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientMale, Task/HereditaryCancerTestingRecommendedFollowupNegative, Task/PrenatalRecommendedFollowup1PatientFemale, Task/PrenatalRecommendedFollowup1PatientMale and Task/PrenatalRecommendedFollowup2PatientMale ( src )

This material derives from the HL7 Terminology (THO). THO is copyright ©1989+ Health Level Seven International and is made available under the CC0 designation. For more licensing information see: https://terminology.hl7.org/license.html Show Usage * Observation Category Codes: Bundle/HereditaryCancerTestingBundleCollectionNegative, Bundle/PrenatalCollectionBundlePartnered... Show 44 more , Bundle/PrenatalCollectionBundleSingle, Bundle/ct-xT-bundle, GdxDiagnosticImplication, GdxTherapeuticImplication, GdxVariant, Observation/HereditaryCancerTestingOverInterNegative, Observation/HereditaryCancerTestingVarNegative, Observation/PrenatalDiagImpAlpha1ADPatientMale, Observation/PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale, Observation/PrenatalDiagImpFactorXiDeficiencyPatientFemale, Observation/PrenatalDiagImpFactorXiDeficiencyPatientMale, Observation/PrenatalDiagImpFamilialHyperinsulinismPatientMale, Observation/PrenatalDiagImpFragileXSyndromePatientFemale, Observation/PrenatalDiagImpGlycogenStorageDiseasePatientFemale, Observation/PrenatalDiagImpGlycogenStorageDiseasePatientMale, Observation/PrenatalDiagImpHereditaryHemochromatoPatientFemale, Observation/PrenatalDiagImpHereditaryHemochromatoPatientMale, Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale, Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientMale, Observation/PrenatalReprDiagImpAlpha1ADPatientMale, Observation/PrenatalReprDiagImpAutosomalRecessiveSAoCSPatientMale, Observation/PrenatalReprDiagImpFactorXiDeficiencyCouple, Observation/PrenatalReprDiagImpFamilialHyperinsulinismPatientMale, Observation/PrenatalReprDiagImpFragileXSyndromeCouple, Observation/PrenatalReprDiagImpHereditaryHemochromatoCouple, Observation/PrenatalVariant1CNVFactorXiDeficiencyPatientMale, Observation/PrenatalVariant1FragileXSyndromePatientFemale, Observation/PrenatalVariant1SNPAlpha1ADPatientMale, Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientFemale, Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientMale, Observation/PrenatalVariant2FragileXSyndromePatientFemale, Observation/PrenatalVariant2SNPHereditaryHemochromatoPatientFemale, Observation/PrenatalVariantAutosomalRecessiveSAoCSPatientMale, Observation/PrenatalVariantFactorXiDeficiencyPatientFemale, Observation/PrenatalVariantFamilialHyperinsulinismPatientMale, Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientFemale, Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientMale, Observation/PrenatalVariantPrimaryHyperoxaluriaPatientFemale, Observation/PrenatalVariantPrimaryHyperoxaluriaPatientMale, Procedure/HereditaryCancerTestingGenomicStudy, Procedure/HereditaryCancerTestingGenomicStudyAnalysis, Procedure/PrenatalGenomicStudyCouple, Procedure/PrenatalGenomicStudyPatientFemale and Procedure/PrenatalGenomicStudyPatientMale * Organization type: Bundle/HereditaryCancerTestingBundleCollectionNegative, Bundle/PrenatalCollectionBundlePartnered, Bundle/PrenatalCollectionBundleSingle and Generic Laboratories, Inc. * ResearchStudyPhase: Bundle/ct-xT-bundle * identifierType: Bundle/HereditaryCancerTestingBundleCollectionNegative, Bundle/PrenatalCollectionBundlePartnered... Show 11 more , Bundle/PrenatalCollectionBundleSingle, Bundle/ct-xT-bundle, DiagnosticReport/HereditaryCancerTestingDiagnosticReportNegative, Patient/PatientFemale, Patient/PatientMale, Practitioner/PractitionerLabDirector, RelatedPerson/PrenatalRelatedPersonPatientFemale, RelatedPerson/PrenatalRelatedPersonPatientMale, ServiceRequest/HereditaryCancerTestingServiceRequest, ServiceRequest/PrenatalServiceRequestCouple and ServiceRequest/PrenatalServiceRequestPatientMale * ObservationInterpretation: Bundle/HereditaryCancerTestingBundleCollectionNegative and Observation/HereditaryCancerTestingVarNegative * RoleCode: Bundle/PrenatalCollectionBundlePartnered, RelatedPerson/PrenatalRelatedPersonPatientFemale and RelatedPerson/PrenatalRelatedPersonPatientMale ( src )

value: Breast Cancer RiskScore®: Remaining Lifetime Risk 10.9% ( src )

External References

Type	Reference	Content
web	www.genericlaboratoriesinc.com	telecom : ph: (800) 876-5309, fax: (781) 876-5305, http://www.genericlaboratoriesinc.com , info@genericlaboratoriesinc.com
web	github.com	GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
web	www.mitre.org	IG © 2023+ MITRE . Package fhir.gdx#0.2.0 based on FHIR 4.0.1 . Generated 2025-08-12 Links: Table of Contents \| QA Report
web	edge-api-demo.stagingtempus.com	https://edge-api-demo.stagingtempus.com/fhir/R4/static/Gene_List_1.json
web	en.wikipedia.org	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
web	en.wikipedia.org	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
web	en.wikipedia.org	Both Bundle.link and Bundle.entry.link are defined to support providing additional context when Bundles are used (e.g. HATEOAS ).
web	ucum.org	The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved. https://ucum.org/trac/wiki/TermsOfUse Show Usage Unified Code for Units of Measure (UCUM) : Bundle/HereditaryCancerTestingBundleCollectionNegative , Bundle/PrenatalCollectionBundlePartnered , Bundle/ct-xT-bundle , Observation/PrenatalVariant1CNVFactorXiDeficiencyPatientMale and RiskAssessment/HereditaryCancerTestingGenRiskAssessNegative

Type

Reference

Content

web

www.genericlaboratoriesinc.com

telecom : ph: (800) 876-5309, fax: (781) 876-5305, http://www.genericlaboratoriesinc.com , info@genericlaboratoriesinc.com

web

github.com

web

www.mitre.org

IG © 2023+ MITRE . Package fhir.gdx#0.2.0 based on FHIR 4.0.1 . Generated 2025-08-12
Links: Table of Contents | QA Report

web

edge-api-demo.stagingtempus.com

https://edge-api-demo.stagingtempus.com/fhir/R4/static/Gene_List_1.json

web

en.wikipedia.org

Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

web

en.wikipedia.org

web

en.wikipedia.org

Both Bundle.link and Bundle.entry.link are defined to support providing additional context when Bundles are used (e.g. HATEOAS ).

web

ucum.org

The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved. https://ucum.org/trac/wiki/TermsOfUse

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