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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\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-double-cousin-relationship</p><p><b>contained</b>: , , , , , </p><p><b>status</b>: current</p><p><b>mode</b>: snapshot</p><p><b>code</b>: TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal <span>(Details : {LOINC code '80738-8' = 'TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal', given as 'TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal'})</span></p><p><b>subject</b>: <a>Pam Taylor</a></p><blockquote><p><b>entry</b></p><p><b>item</b>: id: 1; status: completed; name: Mary; natural mother <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'NMTH' = 'natural mother', given as 'natural mother'})</span>; deceased</p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 2; status: completed; name: Bob; paternal uncle <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'PUNCLE' = 'paternal uncle', given as 'paternal uncle'})</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 3; status: completed; name: Jon; maternal uncle <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MUNCLE' = 'maternal uncle', given as 'maternal uncle'})</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 4; status: completed; name: Alica; maternal grandmother <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MGRMTH' = 'maternal grandmother', given as 'maternal grandmother'})</span>; 70 yr<span> (Details: UCUM code a = 'a')</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 5; status: completed; name: Aunt with Parent ID; maternal aunt <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MAUNT' = 'maternal aunt', given as 'maternal aunt'})</span>; Female <span>(Details : {http://hl7.org/fhir/administrative-gender code 'female' = 'Female', given as 'Female'})</span>; 55 yr<span> (Details: UCUM code a = 'a')</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 6; status: completed; name: Paul; Paternal grandfather <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'PGRFTH' = 'paternal grandfather', given as 'Paternal grandfather'})</span>; 74 yr<span> (Details: UCUM code b = 'b')</span></p></blockquote></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.