{ "resourceType": "StructureDefinition", "id": "Family", "meta": { "lastUpdated": "2019-12-20T21:24:45.697+00:00" }, "text": { "status": "generated", "div": "
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\"Composition0..*Composition
\".\"\".\"\".\"type1..1CodeableConcept
\".\"\".\"\".\"\".\"coding0..*Coding
\".\"\".\"\".\"\".\"\".\"system0..1uriFixed Value: http://ga4gh.org/fhir/phenopackets/CodeSystem/document-type
\".\"\".\"\".\"\".\"\".\"code0..1codeFixed Value: family
\".\"\".\"\".\"subjectS1..1Reference(Phenopacket) {b}The proband (index patient) in the family
\".\"\".\"\".\"title1..1stringFixed Value: Family
\".\"\".\"\".\"section0..*(Slice Definition)Slice: Unordered, Closed by value:code
\".\"\".\"\".\"\".\"section:relatives0..1BackboneElement
\".\"\".\"\".\"\".\"\".\"title0..1stringRelatives
Fixed Value: Relatives
\".\"\".\"\".\"\".\"\".\"code0..1CodeableConceptFixed Value: As shown
\".\"\".\"\".\"\".\"\".\"\".\"coding1..1CodingCode defined by a terminology system
Fixed Value: (complex)
\".\"\".\"\".\"\".\"\".\"\".\"\".\"system1..1uriIdentity of the terminology system
Fixed Value: http://ga4gh.org/fhir/phenopackets/CodeSystem/section-type
\".\"\".\"\".\"\".\"\".\"\".\"\".\"version1..1stringVersion of the system - if relevant
Fixed Value: 0.1.0
\".\"\".\"\".\"\".\"\".\"\".\"\".\"code1..1codeSymbol in syntax defined by the system
Fixed Value: relatives
\".\"\".\"\".\"\".\"\".\"\".\"\".\"display1..1stringRepresentation defined by the system
Fixed Value: Relatives
\".\"\".\"\".\"\".\"\".\"focus0..0
\".\"\".\"\".\"\".\"\".\"entry0..*Reference(Phenopacket) {b}List of Phenopackets for family members other than the proband.
\".\"\".\"\".\"\".\"\".\"emptyReason0..0
\".\"\".\"\".\"\".\"\".\"section0..0
\".\"\".\"\".\"\".\"section:pedigree1..1BackboneElement
\".\"\".\"\".\"\".\"\".\"title0..1stringPedigree
Fixed Value: Pedigree
\".\"\".\"\".\"\".\"\".\"code0..1CodeableConceptFixed Value: As shown
\".\"\".\"\".\"\".\"\".\"\".\"coding1..1CodingCode defined by a terminology system
Fixed Value: (complex)
\".\"\".\"\".\"\".\"\".\"\".\"\".\"system1..1uriIdentity of the terminology system
Fixed Value: http://ga4gh.org/fhir/phenopackets/CodeSystem/section-type
\".\"\".\"\".\"\".\"\".\"\".\"\".\"version1..1stringVersion of the system - if relevant
Fixed Value: 0.1.0
\".\"\".\"\".\"\".\"\".\"\".\"\".\"code1..1codeSymbol in syntax defined by the system
Fixed Value: pedigree
\".\"\".\"\".\"\".\"\".\"\".\"\".\"display1..1stringRepresentation defined by the system
Fixed Value: Pedigree
\".\"\".\"\".\"\".\"\".\"focus0..0
\".\"\".\"\".\"\".\"\".\"entry0..*Reference(Pedigree Node) {b}Representation of the pedigree
\".\"\".\"\".\"\".\"\".\"emptyReason0..0
\".\"\".\"\".\"\".\"\".\"section0..0
\".\"\".\"\".\"\".\"section:htsFiles0..1BackboneElement
\".\"\".\"\".\"\".\"\".\"title0..1stringHTS Files
Fixed Value: HTS Files
\".\"\".\"\".\"\".\"\".\"code0..1CodeableConceptFixed Value: As shown
\".\"\".\"\".\"\".\"\".\"\".\"coding1..1CodingCode defined by a terminology system
Fixed Value: (complex)
\".\"\".\"\".\"\".\"\".\"\".\"\".\"system1..1uriIdentity of the terminology system
Fixed Value: http://ga4gh.org/fhir/phenopackets/CodeSystem/section-type
\".\"\".\"\".\"\".\"\".\"\".\"\".\"version1..1stringVersion of the system - if relevant
Fixed Value: 0.1.0
\".\"\".\"\".\"\".\"\".\"\".\"\".\"code1..1codeSymbol in syntax defined by the system
Fixed Value: hts-files
\".\"\".\"\".\"\".\"\".\"\".\"\".\"display1..1stringRepresentation defined by the system
Fixed Value: HTS files
\".\"\".\"\".\"\".\"\".\"focus0..0
\".\"\".\"\".\"\".\"\".\"entry0..*Reference(Hts File) {b}List of high-throughput sequencing files.
\".\"\".\"\".\"\".\"\".\"emptyReason0..0
\".\"\".\"\".\"\".\"\".\"section0..0

\"doco\" Documentation for this format
" }, "url": "http://ga4gh.org/fhir/phenopackets/StructureDefinition/Family", "version": "0.1.0", "name": "Family", "title": "Family", "status": "draft", "date": "2019-12-20T18:15:04+00:00", "publisher": "Global Alliance for Genomics and Health", "contact": [ { "telecom": [ { "system": "other", "value": "http://ga4gh.org", "rank": 1 } ] } ], "description": "Phenotype, sample and pedigree data required for a genomic diagnosis.", "fhirVersion": "4.0.1", "mapping": [ { "identity": "workflow", "uri": "http://hl7.org/fhir/workflow", "name": "Workflow Pattern" }, { "identity": "rim", "uri": "http://hl7.org/v3", "name": "RIM Mapping" }, { "identity": "cda", "uri": "http://hl7.org/v3/cda", "name": "CDA (R2)" }, { "identity": "fhirdocumentreference", "uri": "http://hl7.org/fhir/documentreference", "name": "FHIR DocumentReference" }, { "identity": "w5", "uri": "http://hl7.org/fhir/fivews", "name": "FiveWs Pattern Mapping" } ], "kind": "resource", "abstract": false, "type": "Composition", "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Composition", "derivation": "constraint", "snapshot": {}, "differential": { "element": [ { "id": "Composition", "path": "Composition" }, { "id": "Composition.type", "path": "Composition.type" }, { "id": "Composition.type.coding", "path": "Composition.type.coding" }, { "id": "Composition.type.coding.system", "path": "Composition.type.coding.system", "fixedUri": "http://ga4gh.org/fhir/phenopackets/CodeSystem/document-type" }, { "id": "Composition.type.coding.code", "path": "Composition.type.coding.code", "fixedCode": "family" }, { "id": "Composition.subject", "path": "Composition.subject", "short": "The proband (index patient) in the family", "min": 1, "type": [ { "code": "Reference", "targetProfile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/Phenopacket" ], "aggregation": [ "bundled" ] } ], "mustSupport": true }, { "id": "Composition.title", "path": "Composition.title", "fixedString": "Family" }, { "id": "Composition.section", "path": "Composition.section", "slicing": { "discriminator": [ { "type": "value", "path": "code" } ], "ordered": false, "rules": "closed" } }, { "id": "Composition.section:relatives", "path": "Composition.section", "sliceName": "relatives", "sliceIsConstraining": false, "min": 0, "max": "1" }, { "id": "Composition.section:relatives.title", "path": "Composition.section.title", "short": "Relatives", "definition": "List of Phenopackets for family members other than the proband.", "fixedString": "Relatives" }, { "id": "Composition.section:relatives.code", "path": "Composition.section.code", "fixedCodeableConcept": { "coding": [ { "system": "http://ga4gh.org/fhir/phenopackets/CodeSystem/section-type", "version": "0.1.0", "code": "relatives", "display": "Relatives" } ] } }, { "id": "Composition.section:relatives.focus", "path": "Composition.section.focus", "max": "0" }, { "id": "Composition.section:relatives.entry", "path": "Composition.section.entry", "short": "List of Phenopackets for family members other than the proband.", "type": [ { "code": "Reference", "targetProfile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/Phenopacket" ], "aggregation": [ "bundled" ] } ] }, { "id": "Composition.section:relatives.emptyReason", "path": "Composition.section.emptyReason", "max": "0" }, { "id": "Composition.section:relatives.section", "path": "Composition.section.section", "max": "0" }, { "id": "Composition.section:pedigree", "path": "Composition.section", "sliceName": "pedigree", "sliceIsConstraining": false, "min": 1, "max": "1" }, { "id": "Composition.section:pedigree.title", "path": "Composition.section.title", "short": "Pedigree", "definition": "Representation of the pedigree.", "fixedString": "Pedigree" }, { "id": "Composition.section:pedigree.code", "path": "Composition.section.code", "fixedCodeableConcept": { "coding": [ { "system": "http://ga4gh.org/fhir/phenopackets/CodeSystem/section-type", "version": "0.1.0", "code": "pedigree", "display": "Pedigree" } ] } }, { "id": "Composition.section:pedigree.focus", "path": "Composition.section.focus", "max": "0" }, { "id": "Composition.section:pedigree.entry", "path": "Composition.section.entry", "short": "Representation of the pedigree", "type": [ { "code": "Reference", "targetProfile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/PedigreeNode" ], "aggregation": [ "bundled" ] } ] }, { "id": "Composition.section:pedigree.emptyReason", "path": "Composition.section.emptyReason", "max": "0" }, { "id": "Composition.section:pedigree.section", "path": "Composition.section.section", "max": "0" }, { "id": "Composition.section:htsFiles", "path": "Composition.section", "sliceName": "htsFiles", "sliceIsConstraining": false, "min": 0, "max": "1" }, { "id": "Composition.section:htsFiles.title", "path": "Composition.section.title", "short": "HTS Files", "definition": "List of high-throughput sequencing files.", "fixedString": "HTS Files" }, { "id": "Composition.section:htsFiles.code", "path": "Composition.section.code", "fixedCodeableConcept": { "coding": [ { "system": "http://ga4gh.org/fhir/phenopackets/CodeSystem/section-type", "version": "0.1.0", "code": "hts-files", "display": "HTS files" } ] } }, { "id": "Composition.section:htsFiles.focus", "path": "Composition.section.focus", "max": "0" }, { "id": "Composition.section:htsFiles.entry", "path": "Composition.section.entry", "short": "List of high-throughput sequencing files.", "type": [ { "code": "Reference", "targetProfile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/HtsFile" ], "aggregation": [ "bundled" ] } ] }, { "id": "Composition.section:htsFiles.emptyReason", "path": "Composition.section.emptyReason", "max": "0" }, { "id": "Composition.section:htsFiles.section", "path": "Composition.section.section", "max": "0" } ] } }