Output File Name Type FSH File Lines Bundle-PhenopacketsBundleExample01.json PhenopacketsBundleExample01 Instance examples/Bundle_PhenopacketsBundleExample01.fsh 1 - 33 CodeSystem-HtsFormat.json HtsFormat CodeSystem codesystems/HtsFormat.fsh 1 - 19 CodeSystem-KaryotypicSex.json KaryotypicSexCS CodeSystem codesystems/KaryotypicSex.fsh 1 - 23 CodeSystem-categories.json Categories CodeSystem codesystems/categories.fsh 1 - 12 CodeSystem-phenotypicFeatureStatusCS.json PhenotypicFeatureStatusCS CodeSystem codesystems/phenotypicFeatureStatusCS.fsh 1 - 13 CodeSystem-section-type.json SectionType CodeSystem codesystems/section-type.fsh 1 - 17 Composition-DevelopmentalDelay.json DevelopmentalDelay Instance examples/Phenopacket_DevelopmentalDelay.fsh 1 - 23 Composition-PhenopacketCompositionExample01.json PhenopacketCompositionExample01 Instance examples/Bundle_PhenopacketCompositionExample01.fsh 1 - 18 Condition-CHF-stageIII.json CHF-stageIII Instance examples/Disease_excluded-disease.fsh 16 - 23 Condition-excluded-disease.json excluded-disease Instance examples/Disease_excluded-disease.fsh 1 - 6 Condition-intellectualDisabilityDisease.json intellectualDisabilityDisease Instance examples/Disease_intellectualDisabilityDisease.fsh 1 - 5 Condition-vitreoretinochoroidopathy.json vitreoretinochoroidopathy Instance examples/Disease_excluded-disease.fsh 9 - 14 DiagnosticReport-PhenopacketsGenomicInterpretationExample01.json PhenopacketsGenomicInterpretationExample01 Instance examples/PhenopacketsVariant_PhenopacketsVariantExample01.fsh 11 - 26 DiagnosticReport-PhenopacketsGenomicInterpretationExample02.json PhenopacketsGenomicInterpretationExample02 Instance examples/PhenopacketsGenomicInterpretation_PhenopacketsGenomicInterpretationExample02.fsh 1 - 17 MedicationAdministration-losartan.json losartan Instance examples/Treatment_losartan.fsh 1 - 11 Observation-CHF-with-severity.json CHF-with-severity Instance examples/PhenotypicFeature_CHF-with-severity.fsh 1 - 10 Observation-MVP-with-onset.json MVP-with-onset Instance examples/PhenotypicFeature_MVP-with-onset.fsh 1 - 8 Observation-PhenopacketsVariantExample01.json PhenopacketsVariantExample01 Instance examples/PhenopacketsVariant_PhenopacketsVariantExample01.fsh 1 - 9 Observation-Polydactyly-with-modifier.json Polydactyly-with-modifier Instance examples/PhenotypicFeature_Polydactyly-with-modifier.fsh 1 - 10 Observation-amyotrophy.json amyotrophy Instance examples/PhenotypicFeature_amyotrophy.fsh 1 - 7 Observation-arachnodactyly.json arachnodactyly Instance examples/PhenotypicFeature_arachnodactyly.fsh 1 - 7 Observation-globalDevelopmentalDelay.json globalDevelopmentalDelay Instance examples/PhenotypicFeature_globalDevelopmentalDelay.fsh 1 - 7 Observation-hp.0003557.json fiberSizeVariability Instance examples/PhenotypicFeature_fiberSizeVariability.fsh 1 - 8 Observation-hypotonia.json hypotonia Instance examples/PhenotypicFeature_hypotonia.fsh 1 - 7 Observation-karyotypic-sex-invalid-1.json karyotypic-sex-invalid-1 Instance examples/Observation_karyotypic-sex-invalid-1.fsh 1 - 8 Observation-karyotypic-sex-valid-1.json karyotypic-sex-valid-1 Instance examples/Observation_karyotypic-sex-valid-1.fsh 1 - 8 Observation-longPhiltrum.json longPhiltrum Instance examples/PhenotypicFeature_longPhiltrum.fsh 1 - 7 Observation-lowSetEars.json lowSetEars Instance examples/PhenotypicFeature_lowSetEars.fsh 1 - 7 Observation-lvdysfunction-excluded.json lvdysfunction-excluded Instance examples/PhenotypicFeature_lvdysfunction-excluded.fsh 1 - 7 Observation-microphthalmia.json microphthalmia Instance examples/PhenotypicFeature_microphthalmia.fsh 1 - 7 Observation-muscleWeakness.json muscleWeakness Instance examples/PhenotypicFeature_muscleWeakness.fsh 1 - 7 Observation-phenotypic-abnormality-invalid-1.json phenotypic-abnormality-invalid-1 Instance examples/Observation_phenotypic-abnormality-invalid-1.fsh 1 - 27 Observation-phenotypic-abnormality-valid-1.json phenotypic-abnormality-valid-1 Instance examples/Observation_phenotypic-abnormality-valid-1.fsh 1 - 19 Observation-reducedVisualAcuity.json reducedVisualAcuity Instance examples/PhenotypicFeature_reducedVisualAcuity.fsh 1 - 7 Observation-retinalDetachment.json retinalDetachment Instance examples/PhenotypicFeature_retinalDetachment.fsh 1 - 7 Observation-tga.json tga Instance examples/PhenotypicFeature_tga.fsh 1 - 7 Observation-thrombocytopenia.json thrombocytopenia Instance examples/Measurement_thrombocytopenia.fsh 1 - 15 Patient-Proband1.json Proband1 Instance examples/Individual_Proband1.fsh 1 - 23 Patient-example-patient.json example-patient Instance examples/Individual_example-patient.fsh 1 - 23 Patient-phenopacketPatientExample01.json phenopacketPatientExample01 Instance examples/Patient_phenopacketPatientExample01.fsh 1 - 10 Practitioner-PeterGeneticist.json PeterGeneticist Instance examples/Practitioner_PeterGeneticist.fsh 1 - 16 Practitioner-PhenopacketPractitionerExample01.json PhenopacketPractitionerExample01 Instance examples/Practitioner_PhenopacketPractitionerExample01.fsh 1 - 12 SearchParameter-service-request-supporting-info.json service-request-supporting-info Instance searchparameters/service-request-supporting-info.fsh 1 - 15 Specimen-biosample.specimen.id.2.json muscleBiopsy Instance examples/Biosample_muscleBiopsy.fsh 1 - 11 Specimen-bladderCarcinoma.json bladderCarcinoma Instance examples/Biosample_bladderCarcinoma.fsh 1 - 17 Specimen-phenopacketSpecimenExample01.json phenopacketSpecimenExample01 Instance examples/Specimen_phenopacketSpecimenExample01.fsh 1 - 12 StructureDefinition-Biosample.json Biosample Profile profiles/Biosample.fsh 1 - 34 StructureDefinition-CodedOnset.json CodedOnset Extension extensions/CodedOnset.fsh 1 - 12 StructureDefinition-DiagnosticMarker.json DiagnosticMarker Extension extensions/DiagnosticMarker.fsh 1 - 12 StructureDefinition-Disease.json Disease Profile profiles/Disease.fsh 1 - 10 StructureDefinition-HistologicalDiagnosis.json HistologicalDiagnosis Extension extensions/HistologicalDiagnosis.fsh 1 - 12 StructureDefinition-Individual.json Individual Profile profiles/Individual.fsh 1 - 16 StructureDefinition-KaryotypicSex.json KaryotypicSex Extension extensions/KaryotypicSex.fsh 1 - 12 StructureDefinition-MaterialSample.json MaterialSample Extension extensions/MaterialSample.fsh 1 - 11 StructureDefinition-Measurement.json Measurement Profile profiles/Measurement.fsh 1 - 11 StructureDefinition-MeasurementExt.json MeasurementExt Extension extensions/MeasurementExt.fsh 1 - 11 StructureDefinition-Onset.json Onset Extension extensions/Onset.fsh 1 - 11 StructureDefinition-PathologicalStage.json PathologicalStage Extension extensions/PathologicalStage.fsh 1 - 12 StructureDefinition-PathologicalTnmFinding.json PathologicalTnmFinding Extension extensions/PathologicalTnmFinding.fsh 1 - 12 StructureDefinition-Phenopacket.json Phenopacket Profile profiles/Phenopacket.fsh 1 - 50 StructureDefinition-PhenotypicFeature.json PhenotypicFeature Profile profiles/PhenotypicFeature.fsh 1 - 42 StructureDefinition-PhenotypicFeatureExt.json PhenotypicFeatureExt Extension extensions/PhenotypicFeatureExt.fsh 1 - 11 StructureDefinition-Taxonomy.json Taxonomy Extension extensions/Taxonomy.fsh 1 - 12 StructureDefinition-Treatment.json Treatment Profile profiles/Treatment.fsh 1 - 19 StructureDefinition-TumorGrade.json TumorGrade Extension extensions/TumorGrade.fsh 1 - 12 StructureDefinition-TumorProgression.json TumorProgression Extension extensions/TumorProgression.fsh 1 - 12 StructureDefinition-acmg-pathogenicity-classification.json AcmgPathogenicityClassification Extension extensions/acmg-pathogenicity-classification.fsh 1 - 10 StructureDefinition-additional-variant-identifier.json AdditionalVariantIdentifier Extension extensions/additional-variant-identifier.fsh 2 - 9 StructureDefinition-filter-status.json FilterStatus Extension extensions/filter-status.fsh 2 - 9 StructureDefinition-interpretation-status.json InterpretationStatus Extension extensions/interpretation-status.fsh 1 - 12 StructureDefinition-molecule-context.json MoleculeContext Extension extensions/molecule-context.fsh 1 - 10 StructureDefinition-phenopackets-genomic-interpretation.json PhenopacketsGenomicInterpretation Profile profiles/phenopackets-genomic-interpretation.fsh 1 - 39 StructureDefinition-phenopackets-variant.json PhenopacketsVariant Profile profiles/phenopackets-variant.fsh 2 - 11 StructureDefinition-phred-quality-score.json PhredQualityScore Extension extensions/phred-quality-score.fsh 2 - 9 StructureDefinition-related-concept-id.json RelatedConceptID Extension extensions/related-concept-id.fsh 2 - 9 StructureDefinition-therapeutic-actionability.json TherapeuticActionability Extension extensions/therapeutic-actionability.fsh 1 - 10 StructureDefinition-vcf-info.json VCFInfo Extension extensions/vcf-info.fsh 1 - 8 StructureDefinition-vrs-object.json VrsObject Extension extensions/vrs-object.fsh 1 - 9 ValueSet-DiagnosticMarker.json DiagnosticMarker ValueSet valuesets/DiagnosticMarker.fsh 1 - 11 ValueSet-HistologicalDiagnosis.json HistologicalDiagnosis ValueSet valuesets/HistologicalDiagnosis.fsh 1 - 12 ValueSet-HpoSeverity.json HpoSeverityVS ValueSet valuesets/HpoSeverity.fsh 1 - 16 ValueSet-KaryotypicSex.json KaryotypicSex ValueSet valuesets/KaryotypicSex.fsh 1 - 11 ValueSet-Onset.json Onset ValueSet valuesets/Onset.fsh 1 - 13 ValueSet-PhenotypicModifierValueSet.json PhenotypicModifierValueSet ValueSet valuesets/PhenotypicModifierValueSet.fsh 1 - 12 ValueSet-Taxonomy.json Taxonomy ValueSet valuesets/Taxonomy.fsh 1 - 11 ValueSet-TumorGrade.json TumorGrade ValueSet valuesets/TumorGrade.fsh 1 - 11 ValueSet-TumorProgression.json TumorProgression ValueSet valuesets/TumorProgression.fsh 1 - 13 ValueSet-TumorStage.json TumorStage ValueSet valuesets/TumorStage.fsh 1 - 11 ValueSet-acmgPathogenicityClassification-vs.json AcmgPathogenicityClassificationVS ValueSet valuesets/acmgPathogenicityClassification-vs.fsh 1 - 16 ValueSet-geno-ontology-allelic-state-vs.json GenoOntologyAllelicStateVS ValueSet valuesets/geno-ontology-allelic-state-vs.fsh 1 - 10 ValueSet-interpretationStatus-vs.json InterpretationStatusVS ValueSet valuesets/interpretationStatus-vs.fsh 1 - 15 ValueSet-moleculeContext-vs.json MoleculeContextVS ValueSet valuesets/moleculeContext-vs.fsh 1 - 14 ValueSet-observation-categories.json ObservationCategories ValueSet valuesets/observation-categories.fsh 1 - 11 ValueSet-phenotypic-abnormality.json PhenotypicAbnormalityValueSet ValueSet valuesets/phenotypic-abnormality.fsh 1 - 10 ValueSet-phenotypic-component.json PhenotypicComponentValueSet ValueSet valuesets/phenotypic-component.fsh 1 - 12 ValueSet-phenotypicFeatureVS.json PhenotypicFeatureStatusValueSet ValueSet valuesets/phenotypicFeatureVS.fsh 1 - 12 ValueSet-sequence-ontology-structural-variant-vs.json SequenceOntologyStructuralVariantVS ValueSet valuesets/sequence-ontology-structural-variant-vs.fsh 1 - 10 ValueSet-therapeuticActionability-vs.json TherapeuticActionabilityVS ValueSet valuesets/therapeuticActionability-vs.fsh 1 - 13