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List-example-double-cousin-relationship-pedigree.ttl

FHIR Infrastructure Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: 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.