GA4GH Pedigree FHIR Implementation Guide
0.1.0 - ci-build

GA4GH Pedigree FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions

: The trio's pedigree - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@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 -------------------------------------------------------------------

 a fhir:Composition;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "TrioPedigree"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://purl.org/ga4gh/pedigree-fhir-ig/StructureDefinition/Pedigree";
       fhir:index 0;
       fhir:link <http://purl.org/ga4gh/pedigree-fhir-ig/StructureDefinition/Pedigree>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"TrioPedigree\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Pedigree.html\">Pedigree</a></p></div><p><b>status</b>: final</p><p><b>type</b>: Family history section <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#422432008)</span></p><p><b>date</b>: 2021-02-10</p><p><b>author</b>: <a href=\"Organization-MelbourneGenomics.html\">Organization/MelbourneGenomics</a> \"Melbourne Genomics\"</p><p><b>title</b>: Pedigree</p></div>"
  ];
  fhir:Composition.status [ fhir:value "final"];
  fhir:Composition.type [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a sct:422432008;
       fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
       fhir:Coding.code [ fhir:value "422432008" ]     ]
  ];
  fhir:Composition.subject [
     fhir:Reference.reference [ fhir:value "Patient/Proband" ]
  ];
  fhir:Composition.date [ fhir:value "2021-02-10"^^xsd:date];
  fhir:Composition.author [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "Organization/MelbourneGenomics" ]
  ];
  fhir:Composition.title [ fhir:value "Pedigree"];
  fhir:Composition.section [
     fhir:index 0;
     fhir:Composition.section.title [ fhir:value "Proband" ];
     fhir:Composition.section.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://purl.org/ga4gh/pedigree-fhir-ig/CodeSystem/SectionType" ];
         fhir:Coding.code [ fhir:value "proband" ]       ]     ];
     fhir:Composition.section.entry [
       fhir:index 0;
       fhir:Reference.reference [ fhir:value "Patient/Proband" ]     ]
  ], [
     fhir:index 1;
     fhir:Composition.section.title [ fhir:value "Reason" ];
     fhir:Composition.section.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://purl.org/ga4gh/pedigree-fhir-ig/CodeSystem/SectionType" ];
         fhir:Coding.code [ fhir:value "reason" ]       ]     ];
     fhir:Composition.section.entry [
       fhir:index 0;
       fhir:Reference.reference [ fhir:value "Condition/ProbandCondition" ]     ]
  ], [
     fhir:index 2;
     fhir:Composition.section.title [ fhir:value "Individuals" ];
     fhir:Composition.section.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://purl.org/ga4gh/pedigree-fhir-ig/CodeSystem/SectionType" ];
         fhir:Coding.code [ fhir:value "individuals" ]       ]     ];
     fhir:Composition.section.entry [
       fhir:index 0;
       fhir:Reference.reference [ fhir:value "Patient/Proband" ]     ], [
       fhir:index 1;
       fhir:Reference.reference [ fhir:value "Patient/Mother" ]     ], [
       fhir:index 2;
       fhir:Reference.reference [ fhir:value "Patient/Father" ]     ]
  ], [
     fhir:index 3;
     fhir:Composition.section.title [ fhir:value "Relationships" ];
     fhir:Composition.section.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://purl.org/ga4gh/pedigree-fhir-ig/CodeSystem/SectionType" ];
         fhir:Coding.code [ fhir:value "relationships" ]       ]     ];
     fhir:Composition.section.entry [
       fhir:index 0;
       fhir:Reference.reference [ fhir:value "FamilyMemberHistory/ProbandFatherRelationship" ]     ], [
       fhir:index 1;
       fhir:Reference.reference [ fhir:value "FamilyMemberHistory/ProbandMotherRelationship" ]     ]
  ], [
     fhir:index 4;
     fhir:Composition.section.title [ fhir:value "Other" ];
     fhir:Composition.section.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://purl.org/ga4gh/pedigree-fhir-ig/CodeSystem/SectionType" ];
         fhir:Coding.code [ fhir:value "other" ]       ]     ];
     fhir:Composition.section.entry [
       fhir:index 0;
       fhir:Reference.reference [ fhir:value "Condition/FatherFirstCondition" ]     ], [
       fhir:index 1;
       fhir:Reference.reference [ fhir:value "Condition/FatherSecondCondition" ]     ], [
       fhir:index 2;
       fhir:Reference.reference [ fhir:value "Organization/MelbourneGenomics" ]     ]
  ].

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.