GenomeX Data Exchange FHIR IG
0.2.0 - draft

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

Table of Contents

.. 0 Table of Contents
... 1 GenomeX Data Exchange
... 2 Overview
... 3 Report Content (Payload)
... 4 Transport Messaging
... 5 Somatic Test Reporting
... 6 Germline Oncology Test Reporting
... 7 Germline Prenatal Test Reporting
... 8 Biomarker Test Reporting
... 9 Extended Example
... 10 Artifacts Summary
.... 10.1 GDX Diagnostic Implication
.... 10.2 GDX Lab Organization
.... 10.3 GDX Patient
.... 10.4 GDX Specimen
.... 10.5 GDX Therapeutic Implication
.... 10.6 GDX Variant
.... 10.7 Genomic Bundle Profile
.... 10.8 Genomic Report Profile
.... 10.9 Genomic Service Request
.... 10.10 ct-xT-bundle
.... 10.11 HereditaryCancerTestingBundleCollectionNegative
.... 10.12 HereditaryCancerTestingDiagnosticReportNegative
.... 10.13 HereditaryCancerTestingGenomicStudy
.... 10.14 HereditaryCancerTestingGenomicStudyAnalysis
.... 10.15 HereditaryCancerTestingGenRiskAssessNegative
.... 10.16 HereditaryCancerTestingOverInterNegative
.... 10.17 HereditaryCancerTestingQuestionnaireResponseNegative
.... 10.18 HereditaryCancerTestingRecommendedFollowupNegative
.... 10.19 HereditaryCancerTestingServiceRequest
.... 10.20 HereditaryCancerTestingVarNegative
.... 10.21 Organization
.... 10.22 PatientFemale
.... 10.23 PatientMale
.... 10.24 PractitionerLabDirector
.... 10.25 PractitionerOrderingProvider
.... 10.26 PractitionerPathologist
.... 10.27 PrenatalCollectionBundlePartnered
.... 10.28 PrenatalCollectionBundleSingle
.... 10.29 PrenatalDiagImpAlpha1ADPatientMale
.... 10.30 PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale
.... 10.31 PrenatalDiagImpFactorXiDeficiencyPatientFemale
.... 10.32 PrenatalDiagImpFactorXiDeficiencyPatientMale
.... 10.33 PrenatalDiagImpFamilialHyperinsulinismPatientMale
.... 10.34 PrenatalDiagImpFragileXSyndromePatientFemale
.... 10.35 PrenatalDiagImpGlycogenStorageDiseasePatientFemale
.... 10.36 PrenatalDiagImpGlycogenStorageDiseasePatientMale
.... 10.37 PrenatalDiagImpHereditaryHemochromatoPatientFemale
.... 10.38 PrenatalDiagImpHereditaryHemochromatoPatientMale
.... 10.39 PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale
.... 10.40 PrenatalDiagImpPrimaryHyperoxaluriaPatientMale
.... 10.41 PrenatalGenomicReportCouple
.... 10.42 PrenatalGenomicReportPatientFemale
.... 10.43 PrenatalGenomicReportPatientMale
.... 10.44 PrenatalGenomicStudyAnalysisAlpha1ADPatientMale
.... 10.45 PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale
.... 10.46 PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple
.... 10.47 PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientFemale
.... 10.48 PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientMale
.... 10.49 PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale
.... 10.50 PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale
.... 10.51 PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple
.... 10.52 PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientFemale
.... 10.53 PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale
.... 10.54 PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple
.... 10.55 PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale
.... 10.56 PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale
.... 10.57 PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple
.... 10.58 PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientFemale
.... 10.59 PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientMale
.... 10.60 PrenatalGenomicStudyCouple
.... 10.61 PrenatalGenomicStudyPatientFemale
.... 10.62 PrenatalGenomicStudyPatientMale
.... 10.63 PrenatalGroupPatientFemaleandPatientMale
.... 10.64 PrenatalNegativeReprRiskCouple
.... 10.65 PrenatalNegativeReprRiskPatientMale
.... 10.66 PrenatalRecommendedFollowup1PatientFemale
.... 10.67 PrenatalRecommendedFollowup1PatientMale
.... 10.68 PrenatalRecommendedFollowup2PatientMale
.... 10.69 PrenatalRelatedPersonPatientFemale
.... 10.70 PrenatalRelatedPersonPatientMale
.... 10.71 PrenatalReprDiagImpAlpha1ADPatientMale
.... 10.72 PrenatalReprDiagImpAutosomalRecessiveSAoCSPatientMale
.... 10.73 PrenatalReprDiagImpFactorXiDeficiencyCouple
.... 10.74 PrenatalReprDiagImpFamilialHyperinsulinismPatientMale
.... 10.75 PrenatalReprDiagImpFragileXSyndromeCouple
.... 10.76 PrenatalReprDiagImpHereditaryHemochromatoCouple
.... 10.77 PrenatalReproductivePostRiskAlpha1ADPatientMale
.... 10.78 PrenatalReproductivePostRiskAutosomalRecessiveSAoCSPatientMale
.... 10.79 PrenatalReproductivePostRiskFactorXiDeficiencyCouple
.... 10.80 PrenatalReproductivePostRiskFamilialHyperinsulinismPatientMale
.... 10.81 PrenatalReproductivePreRiskAlpha1ADPatientMale
.... 10.82 PrenatalReproductivePreRiskAutosomalRecessiveSAoCSPatientMale
.... 10.83 PrenatalReproductivePreRiskFactorXiDeficiencyCouple
.... 10.84 PrenatalReproductivePreRiskFamilialHyperinsulinismPatientMale
.... 10.85 PrenatalResidualRiskAlpha1ADPatientMale
.... 10.86 PrenatalResidualRiskAutosomalRecessiveSAoCSPatientMale
.... 10.87 PrenatalResidualRiskFactorXiDeficiencyPatientFemale
.... 10.88 PrenatalResidualRiskFactorXiDeficiencyPatientMale
.... 10.89 PrenatalResidualRiskFamilialHyperinsulinismPatientMale
.... 10.90 PrenatalResidualRiskGlycogenStorageDiseasePatientFemale
.... 10.91 PrenatalResidualRiskGlycogenStorageDiseasePatientMale
.... 10.92 PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale
.... 10.93 PrenatalResidualRiskPrimaryHyperoxaluriaPatientMale
.... 10.94 PrenatalServiceRequestCouple
.... 10.95 PrenatalServiceRequestPatientMale
.... 10.96 PrenatalSpecimenPatientFemale
.... 10.97 PrenatalSpecimenPatientMale
.... 10.98 PrenatalVariant1CNVFactorXiDeficiencyPatientMale
.... 10.99 PrenatalVariant1FragileXSyndromePatientFemale
.... 10.100 PrenatalVariant1SNPAlpha1ADPatientMale
.... 10.101 PrenatalVariant1SNPHereditaryHemochromatoPatientFemale
.... 10.102 PrenatalVariant1SNPHereditaryHemochromatoPatientMale
.... 10.103 PrenatalVariant2FragileXSyndromePatientFemale
.... 10.104 PrenatalVariant2SNPHereditaryHemochromatoPatientFemale
.... 10.105 PrenatalVariantAutosomalRecessiveSAoCSPatientMale
.... 10.106 PrenatalVariantFactorXiDeficiencyPatientFemale
.... 10.107 PrenatalVariantFamilialHyperinsulinismPatientMale
.... 10.108 PrenatalVariantGlycogenStorageDiseaseTypePatientFemale
.... 10.109 PrenatalVariantGlycogenStorageDiseaseTypePatientMale
.... 10.110 PrenatalVariantPrimaryHyperoxaluriaPatientFemale
.... 10.111 PrenatalVariantPrimaryHyperoxaluriaPatientMale
.... 10.112 SpecimenBloodFemale
.... 10.113 SpecimenTissueMale