This page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3
FHIR Infrastructure Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Device, Patient, Practitioner |
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Simple genetic pedigree tree example with double cousin replationship
@prefix fhir: <http://hl7.org/fhir/> . @prefix loinc: <http://loinc.org/rdf#> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix sct: <http://snomed.info/id/> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/List/example-double-cousin-relationship> a fhir:List; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "example-double-cousin-relationship"]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><table><tr><td>Mode: snapshotStatus: currentCode: TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal</td></tr><tr><td>Subject: <a>Patient/example: Pam Taylor</a> "Peter CHALMERS"</td></tr></table><table><tr><td><b>Items</b></td></tr><tr><td><a>#1</a></td></tr><tr><td><a>#2</a></td></tr><tr><td><a>#3</a></td></tr><tr><td><a>#4</a></td></tr><tr><td><a>#5</a></td></tr><tr><td><a>#6</a></td></tr></table></div>" ]; fhir:DomainResource.contained [ a fhir:FamilyMemberHistory; fhir:index 0; fhir:Resource.id [ fhir:value "1" ]; fhir:FamilyMemberHistory.status [ fhir:value "completed" ]; fhir:FamilyMemberHistory.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:FamilyMemberHistory.name [ fhir:value "Mary" ]; fhir:FamilyMemberHistory.relationship [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "NMTH" ]; fhir:Coding.display [ fhir:value "natural mother" ] ]; fhir:CodeableConcept.text [ fhir:value "natural mother" ] ]; fhir:FamilyMemberHistory.deceasedBoolean [ fhir:value "true"^^xsd:boolean ]; fhir:FamilyMemberHistory.condition [ fhir:index 0; fhir:FamilyMemberHistory.condition.code [ fhir:CodeableConcept.coding [ fhir:index 0; a sct:73211009; fhir:Coding.system [ fhir:value "http://snomed.info/sct" ]; fhir:Coding.code [ fhir:value "73211009" ]; fhir:Coding.display [ fhir:value "Diabetes mellitus" ] ]; fhir:CodeableConcept.text [ fhir:value "Diabetes mellitus" ] ]; fhir:FamilyMemberHistory.condition.onsetAge [ fhir:Quantity.value [ fhir:value "45"^^xsd:decimal ]; fhir:Quantity.unit [ fhir:value "yr" ]; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]; fhir:Quantity.code [ fhir:value "a" ] ] ] ], [ a fhir:FamilyMemberHistory; fhir:index 1; fhir:Resource.id [ fhir:value "2" ]; fhir:FamilyMemberHistory.status [ fhir:value "completed" ]; fhir:FamilyMemberHistory.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:FamilyMemberHistory.name [ fhir:value "Bob" ]; fhir:FamilyMemberHistory.relationship [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "PUNCLE" ]; fhir:Coding.display [ fhir:value "paternal uncle" ] ]; fhir:CodeableConcept.text [ fhir:value "paternal uncle" ] ]; fhir:FamilyMemberHistory.condition [ fhir:index 0; fhir:FamilyMemberHistory.condition.code [ fhir:CodeableConcept.coding [ fhir:index 0; a sct:1481000119100; fhir:Coding.system [ fhir:value "http://snomed.info/sct" ]; fhir:Coding.code [ fhir:value "1481000119100" ]; fhir:Coding.display [ fhir:value "Diabetes mellitus type 2 without retinopathy" ] ]; fhir:CodeableConcept.text [ fhir:value "Diabetes mellitus type 2 without retinopathy" ] ]; fhir:FamilyMemberHistory.condition.onsetAge [ fhir:Quantity.value [ fhir:value "35"^^xsd:decimal ]; fhir:Quantity.unit [ fhir:value "yr" ]; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]; fhir:Quantity.code [ fhir:value "a" ] ] ] ], [ a fhir:FamilyMemberHistory; fhir:index 2; fhir:Resource.id [ fhir:value "3" ]; fhir:FamilyMemberHistory.status [ fhir:value "completed" ]; fhir:FamilyMemberHistory.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:FamilyMemberHistory.name [ fhir:value "Jon" ]; fhir:FamilyMemberHistory.relationship [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "MUNCLE" ]; fhir:Coding.display [ fhir:value "maternal uncle" ] ]; fhir:CodeableConcept.text [ fhir:value "maternal uncle" ] ] ], [ a fhir:FamilyMemberHistory; fhir:index 3; fhir:Resource.id [ fhir:value "4" ]; fhir:DomainResource.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling" ]; fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "type" ]; fhir:Extension.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "NSIS" ]; fhir:Coding.display [ fhir:value "natural sister" ] ]; fhir:CodeableConcept.text [ fhir:value "natural sister" ] ] ], [ fhir:index 1; fhir:Extension.url [ fhir:value "reference" ]; fhir:Extension.valueReference [ fhir:link <http://hl7.org/fhir/FamilyMemberHistory/mother>; fhir:Reference.reference [ fhir:value "FamilyMemberHistory/mother" ]; fhir:Reference.display [ fhir:value "paternal grandmother" ] ] ] ]; fhir:FamilyMemberHistory.status [ fhir:value "completed" ]; fhir:FamilyMemberHistory.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:FamilyMemberHistory.name [ fhir:value "Alica" ]; fhir:FamilyMemberHistory.relationship [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "MGRMTH" ]; fhir:Coding.display [ fhir:value "maternal grandmother" ] ]; fhir:CodeableConcept.text [ fhir:value "maternal grandmother" ] ]; fhir:FamilyMemberHistory.ageAge [ fhir:Quantity.value [ fhir:value "70"^^xsd:decimal ]; fhir:Quantity.unit [ fhir:value "yr" ]; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]; fhir:Quantity.code [ fhir:value "a" ] ] ], [ a fhir:FamilyMemberHistory; fhir:index 4; fhir:Resource.id [ fhir:value "5" ]; fhir:DomainResource.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent" ]; fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "type" ]; fhir:Extension.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "MTH" ]; fhir:Coding.display [ fhir:value "mother" ] ]; fhir:CodeableConcept.text [ fhir:value "mother" ] ] ], [ fhir:index 1; fhir:Extension.url [ fhir:value "reference" ]; fhir:Extension.valueReference [ fhir:link <http://hl7.org/fhir/FamilyMemberHistory/147146>; fhir:Reference.reference [ fhir:value "FamilyMemberHistory/147146" ]; fhir:Reference.display [ fhir:value "maternal grandmother" ] ] ] ]; fhir:FamilyMemberHistory.status [ fhir:value "completed" ]; fhir:FamilyMemberHistory.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:FamilyMemberHistory.name [ fhir:value "Aunt with Parent ID" ]; fhir:FamilyMemberHistory.relationship [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "MAUNT" ]; fhir:Coding.display [ fhir:value "maternal aunt" ] ]; fhir:CodeableConcept.text [ fhir:value "maternal aunt" ] ]; fhir:FamilyMemberHistory.sex [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/administrative-gender" ]; fhir:Coding.code [ fhir:value "female" ]; fhir:Coding.display [ fhir:value "Female" ] ] ]; fhir:FamilyMemberHistory.ageAge [ fhir:Quantity.value [ fhir:value "55"^^xsd:decimal ]; fhir:Quantity.unit [ fhir:value "yr" ]; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]; fhir:Quantity.code [ fhir:value "a" ] ] ], [ a fhir:FamilyMemberHistory; fhir:index 5; fhir:Resource.id [ fhir:value "6" ]; fhir:DomainResource.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling" ]; fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "type" ]; fhir:Extension.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "NBRO" ]; fhir:Coding.display [ fhir:value "natural brother" ] ]; fhir:CodeableConcept.text [ fhir:value "natural brother" ] ] ], [ fhir:index 1; fhir:Extension.url [ fhir:value "reference" ]; fhir:Extension.valueReference [ fhir:link <http://hl7.org/fhir/FamilyMemberHistory/father>; fhir:Reference.reference [ fhir:value "FamilyMemberHistory/father" ]; fhir:Reference.display [ fhir:value "maternal grandfather" ] ] ] ]; fhir:FamilyMemberHistory.status [ fhir:value "completed" ]; fhir:FamilyMemberHistory.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:FamilyMemberHistory.name [ fhir:value "Paul" ]; fhir:FamilyMemberHistory.relationship [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ]; fhir:Coding.code [ fhir:value "PGRFTH" ]; fhir:Coding.display [ fhir:value "Paternal grandfather" ] ]; fhir:CodeableConcept.text [ fhir:value "Paternal grandfather" ] ]; fhir:FamilyMemberHistory.ageAge [ fhir:Quantity.value [ fhir:value "74"^^xsd:decimal ]; fhir:Quantity.unit [ fhir:value "yr" ]; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]; fhir:Quantity.code [ fhir:value "b" ] ] ]; fhir:List.status [ fhir:value "current"]; fhir:List.mode [ fhir:value "snapshot"]; fhir:List.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:80738-8; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "80738-8" ]; fhir:Coding.display [ fhir:value "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal" ] ]; fhir:CodeableConcept.text [ fhir:value "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal" ] ]; fhir:List.subject [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ]; fhir:Reference.display [ fhir:value "Pam Taylor" ] ]; fhir:List.entry [ fhir:index 0; fhir:List.entry.item [ fhir:Reference.reference [ fhir:value "#1" ] ] ], [ fhir:index 1; fhir:List.entry.item [ fhir:Reference.reference [ fhir:value "#2" ] ] ], [ fhir:index 2; fhir:List.entry.item [ fhir:Reference.reference [ fhir:value "#3" ] ] ], [ fhir:index 3; fhir:List.entry.item [ fhir:Reference.reference [ fhir:value "#4" ] ] ], [ fhir:index 4; fhir:List.entry.item [ fhir:Reference.reference [ fhir:value "#5" ] ] ], [ fhir:index 5; fhir:List.entry.item [ fhir:Reference.reference [ fhir:value "#6" ] ] ] . <http://hl7.org/fhir/Patient/example> a fhir:Patient . <http://hl7.org/fhir/FamilyMemberHistory/mother> a fhir:FamilyMemberHistory . <http://hl7.org/fhir/FamilyMemberHistory/147146> a fhir:FamilyMemberHistory . <http://hl7.org/fhir/FamilyMemberHistory/father> a fhir:FamilyMemberHistory . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/List/example-double-cousin-relationship.ttl> a owl:Ontology; owl:imports fhir:fhir.ttl; owl:versionIRI <http://build.fhir.org/List/example-double-cousin-relationship.ttl> . # -------------------------------------------------------------------------------------
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.