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Up
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Bundle-PhenopacketsBundleExample01.json
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CodeSystem-categories.json
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CodeSystem-HtsFormat.json
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CodeSystem-KaryotypicSex.json
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CodeSystem-phenotypicFeatureStatusCS.json
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CodeSystem-section-type.json
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Composition-DevelopmentalDelay.json
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Composition-PhenopacketCompositionExample01.json
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Condition-CHF-stageIII.json
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Condition-excluded-disease.json
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Condition-intellectualDisabilityDisease.json
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Condition-vitreoretinochoroidopathy.json
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DiagnosticReport-PhenopacketsGenomicInterpretationExample01.json
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DiagnosticReport-PhenopacketsGenomicInterpretationExample02.json
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ImplementationGuide-phenomics-exchange.json
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MedicationAdministration-losartan.json
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Observation-amyotrophy.json
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Observation-arachnodactyly.json
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Observation-CHF-with-severity.json
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Observation-globalDevelopmentalDelay.json
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Observation-hp.0003557.json
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Observation-hypotonia.json
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Observation-karyotypic-sex-invalid-1.json
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Observation-karyotypic-sex-valid-1.json
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Observation-longPhiltrum.json
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Observation-lowSetEars.json
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Observation-lvdysfunction-excluded.json
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Observation-microphthalmia.json
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Observation-muscleWeakness.json
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Observation-MVP-with-onset.json
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Observation-PhenopacketsVariantExample01.json
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Observation-phenotypic-abnormality-invalid-1.json
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Observation-phenotypic-abnormality-valid-1.json
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Observation-Polydactyly-with-modifier.json
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Observation-reducedVisualAcuity.json
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Observation-retinalDetachment.json
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Observation-tga.json
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Observation-thrombocytopenia.json
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Patient-example-patient.json
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Patient-phenopacketPatientExample01.json
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Patient-Proband1.json
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Practitioner-PeterGeneticist.json
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Practitioner-PhenopacketPractitionerExample01.json
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SearchParameter-service-request-supporting-info.json
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Specimen-biosample.specimen.id.2.json
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Specimen-bladderCarcinoma.json
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Specimen-phenopacketSpecimenExample01.json
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StructureDefinition-acmg-pathogenicity-classification.json
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StructureDefinition-additional-variant-identifier.json
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StructureDefinition-Biosample.json
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StructureDefinition-CodedOnset.json
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StructureDefinition-DiagnosticMarker.json
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StructureDefinition-Disease.json
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StructureDefinition-filter-status.json
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StructureDefinition-HistologicalDiagnosis.json
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StructureDefinition-Individual.json
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StructureDefinition-interpretation-status.json
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StructureDefinition-KaryotypicSex.json
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StructureDefinition-MaterialSample.json
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StructureDefinition-Measurement.json
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StructureDefinition-MeasurementExt.json
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StructureDefinition-molecule-context.json
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StructureDefinition-Onset.json
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StructureDefinition-PathologicalStage.json
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StructureDefinition-PathologicalTnmFinding.json
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StructureDefinition-Phenopacket.json
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StructureDefinition-phenopackets-genomic-interpretation.json
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StructureDefinition-phenopackets-variant.json
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StructureDefinition-PhenotypicFeature.json
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StructureDefinition-PhenotypicFeatureExt.json
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StructureDefinition-phred-quality-score.json
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StructureDefinition-related-concept-id.json
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StructureDefinition-Taxonomy.json
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StructureDefinition-therapeutic-actionability.json
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StructureDefinition-Treatment.json
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StructureDefinition-TumorGrade.json
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StructureDefinition-TumorProgression.json
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StructureDefinition-vcf-info.json
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StructureDefinition-vrs-object.json
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ValueSet-acmgPathogenicityClassification-vs.json
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ValueSet-DiagnosticMarker.json
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ValueSet-geno-ontology-allelic-state-vs.json
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ValueSet-HistologicalDiagnosis.json
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ValueSet-HpoSeverity.json
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ValueSet-interpretationStatus-vs.json
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ValueSet-KaryotypicSex.json
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ValueSet-moleculeContext-vs.json
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ValueSet-observation-categories.json
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ValueSet-Onset.json
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ValueSet-phenotypic-abnormality.json
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ValueSet-phenotypic-component.json
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ValueSet-phenotypicFeatureVS.json
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ValueSet-PhenotypicModifierValueSet.json
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ValueSet-sequence-ontology-structural-variant-vs.json
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ValueSet-Taxonomy.json
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ValueSet-therapeuticActionability-vs.json
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ValueSet-TumorGrade.json
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ValueSet-TumorProgression.json
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ValueSet-TumorStage.json
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