{ "resourceType": "StructureDefinition", "id": "PedigreeNode", "meta": { "lastUpdated": "2019-12-20T21:26:19.648+00:00" }, "text": { "status": "generated", "div": "
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\"FamilyMemberHistory0..*Family member history for genetics analysis
\".\"\".\"\".\"extension0..*ExtensionSlice: Unordered, Open by value:url
\".\"\".\"\".\"pedigree-node-affected-statusS1..1CodingThe affected status of a person in the pedigree.
URL: http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-affected-status
\".\"\".\"\".\"pedigree-node-family-identifierS1..1IdentifierAn identifier for the family that is referred to by this pedigree.
URL: http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-family-identifier
\".\"\".\"\".\"pedigree-node-individualS0..1Reference()A reference to the individual referenced by this pedigree node, if available.
URL: http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-individual
\".\"\".\"\".\"patientS1..1Reference(PedigreeNodeIndividual)
\".\"\".\"\".\"sex:Sex1..1CodeableConcept

\"doco\" Documentation for this format
" }, "url": "http://ga4gh.org/fhir/phenopackets/StructureDefinition/PedigreeNode", "version": "0.1.0", "name": "PedigreeNode", "title": "Pedigree Node", "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": "The Phenopackets Pedigree element represents a PED file, which describes the family relationships of each specimen along with their gender and phenotype. PED files are typically used by software for genetic linkage analysis. PED files have six mandatory columns, and additional optional columns (that are typically not used in the context of genomic analysis). FHIR already has resources and extensions that represent a pedigree. A pedigree node extends the FamilyMemberHistory-Genetic profile.", "fhirVersion": "4.0.1", "mapping": [ { "identity": "workflow", "uri": "http://hl7.org/fhir/workflow", "name": "Workflow Pattern" }, { "identity": "v2", "uri": "http://hl7.org/v2", "name": "HL7 v2 Mapping" }, { "identity": "rim", "uri": "http://hl7.org/v3", "name": "RIM Mapping" }, { "identity": "w5", "uri": "http://hl7.org/fhir/fivews", "name": "FiveWs Pattern Mapping" } ], "kind": "resource", "abstract": false, "type": "FamilyMemberHistory", "baseDefinition": "http://hl7.org/fhir/StructureDefinition/familymemberhistory-genetic", "derivation": "constraint", "snapshot": {}, "differential": { "element": [ { "id": "FamilyMemberHistory", "path": "FamilyMemberHistory" }, { "id": "FamilyMemberHistory.extension", "path": "FamilyMemberHistory.extension", "slicing": { "discriminator": [ { "type": "value", "path": "url" } ], "ordered": false, "rules": "open" } }, { "id": "FamilyMemberHistory.extension:affected-status", "path": "FamilyMemberHistory.extension", "sliceName": "affected-status", "sliceIsConstraining": false, "label": "affectedStatus", "short": "The affected status of a person in the pedigree.", "definition": "The affected status of a person in the pedigree.", "min": 1, "max": "1", "type": [ { "code": "Extension", "profile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-affected-status" ] } ], "mustSupport": true }, { "id": "FamilyMemberHistory.extension:family-identifier", "path": "FamilyMemberHistory.extension", "sliceName": "family-identifier", "sliceIsConstraining": false, "label": "familyIdentifier", "short": "An identifier for the family that is referred to by this pedigree.", "definition": "An identifier for the family that is referred to by this pedigree.", "min": 1, "max": "1", "type": [ { "code": "Extension", "profile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-family-identifier" ] } ], "mustSupport": true }, { "id": "FamilyMemberHistory.extension:individual", "path": "FamilyMemberHistory.extension", "sliceName": "individual", "label": "identifier", "short": "A reference to the individual referenced by this pedigree node, if available.", "definition": "A reference to the individual referenced by this pedigree node, if available.", "min": 0, "max": "1", "type": [ { "code": "Extension", "profile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-individual" ] } ], "mustSupport": true }, { "id": "FamilyMemberHistory.patient", "path": "FamilyMemberHistory.patient", "type": [ { "code": "Reference", "targetProfile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/pedigree-node-individual" ] } ], "mustSupport": true }, { "id": "FamilyMemberHistory.sex:Sex", "path": "FamilyMemberHistory.sex", "sliceName": "Sex", "min": 1 } ] } }